ClinVar Genomic variation as it relates to human health
NM_000363.5(TNNI3):c.373-10=
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance(1); Benign(10); Likely benign(2)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000363.5(TNNI3):c.373-10=
Variation ID: 36881 Accession: VCV000036881.32
- Type and length
-
single nucleotide variant, -
- Location
-
Cytogenetic: 19q13.42 19: 55154216 (GRCh38) [ NCBI UCSC ] 19: 55665584 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 4, 2013 Feb 14, 2024 Feb 1, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000363.5:c.373-10= MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
intron variant NC_000019.10:g.55154216= NC_000019.9:g.55665584A>C NG_007866.2:g.8517= NG_011829.2:g.23= LRG_432:g.8517= LRG_432t1:c.373-10G= LRG_679:g.23= - Protein change
- Other names
- -
- Canonical SPDI
- NC_000019.10:55154215:C:C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.99999
Trans-Omics for Precision Medicine (TOPMed) 1.00000
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
TNNI3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
688 | 748 | |
DNAAF3 | - | - |
GRCh38 GRCh37 |
44 | 450 | |
TNNT1 | - | - |
GRCh38 GRCh37 |
344 | 395 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Benign (1) |
criteria provided, single submitter
|
Aug 18, 2011 | RCV000030563.10 | |
Benign/Likely benign (6) |
criteria provided, multiple submitters, no conflicts
|
Sep 25, 2012 | RCV000154609.25 | |
Benign (1) |
criteria provided, single submitter
|
Jun 14, 2016 | RCV000340860.13 | |
Likely benign (1) |
criteria provided, single submitter
|
Jun 14, 2016 | RCV000395490.13 | |
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
|
Mar 19, 2018 | RCV000769528.14 | |
Benign (1) |
criteria provided, single submitter
|
Feb 1, 2024 | RCV000860231.16 | |
Benign (1) |
criteria provided, single submitter
|
Jan 12, 2018 | RCV001129875.12 | |
Benign (1) |
criteria provided, single submitter
|
Jan 12, 2018 | RCV001129877.12 | |
Benign (1) |
criteria provided, single submitter
|
Jan 12, 2018 | RCV001129874.12 | |
Benign (1) |
criteria provided, single submitter
|
Jan 12, 2018 | RCV001129876.12 | |
Likely benign (1) |
no assertion criteria provided
|
- | RCV001701643.9 | |
click to load more click to collapse |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Benign
(-)
|
criteria provided, single submitter
Method: clinical testing
|
NOT SPECIFIED
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000303835.1
First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016 |
|
|
Likely benign
(Jun 14, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Nemaline Myopathy, Recessive
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000483798.2
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
|
|
Benign
(Jun 14, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Primary Ciliary Dyskinesia
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000483797.2
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
|
|
Benign
(Sep 25, 2012)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000169017.10
First in ClinVar: Jun 23, 2014 Last updated: Oct 02, 2016 |
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
|
|
Uncertain significance
(Jul 14, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Cardiomyopathy
Affected status: unknown
Allele origin:
germline
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000900923.1 First in ClinVar: May 06, 2019 Last updated: May 06, 2019 |
|
|
Benign
(Jan 12, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Cardiomyopathy, familial restrictive, 1
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001289427.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
|
|
Benign
(Jan 12, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001289428.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
|
|
Benign
(Jan 12, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Dilated cardiomyopathy 2A
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001289430.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
|
|
Benign
(Jan 12, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hypertrophic cardiomyopathy 7
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001289429.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
|
|
benign
(Aug 18, 2011)
|
criteria provided, single submitter
Method: curation, clinical testing
|
Hypertrophic Cardiomyopathy
(autosomal unknown)
Affected status: unknown, yes
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000053234.2
First in ClinVar: Apr 04, 2013 Last updated: Mar 28, 2022 |
Comment:
Converted during submission to Benign.
Observation 1:
Tissue: Blood
Observation 2:
Tissue: Blood
Observation 3:
Tissue: Blood
Observation 4:
Tissue: Blood
Observation 5:
Tissue: Blood
Observation 6:
Tissue: Blood
Observation 7:
Tissue: Blood
Observation 8:
Tissue: Blood
Observation 9:
Tissue: Blood
Observation 10:
Tissue: Blood
Observation 11:
Tissue: Blood
Observation 12:
Tissue: Blood
Observation 13:
Tissue: Blood
Observation 14:
Tissue: Blood
Observation 15:
Tissue: Blood
Observation 16:
Tissue: Blood
Observation 17:
Tissue: Blood
Observation 18:
Tissue: Blood
Observation 19:
Tissue: Blood
Observation 20:
Tissue: Blood
Observation 21:
Tissue: Blood
Observation 22:
Tissue: Blood
Observation 23:
Tissue: Blood
Observation 24:
Tissue: Blood
Observation 25:
Tissue: Blood
Observation 26:
Tissue: Blood
Observation 27:
Tissue: Blood
Observation 28:
Tissue: Blood
Observation 29:
Tissue: Blood
Observation 30:
Tissue: Blood
Observation 31:
Tissue: Blood
Observation 32:
Tissue: Blood
Observation 33:
Tissue: Blood
Observation 34:
Tissue: Blood
Observation 35:
Tissue: Blood
Observation 36:
Tissue: Blood
Observation 37:
Tissue: Blood
Observation 38:
Tissue: Blood
Observation 39:
Tissue: Blood
Observation 40:
Tissue: Blood
Observation 41:
Tissue: Blood
Observation 42:
Tissue: Blood
Observation 43:
Tissue: Blood
Observation 44:
Tissue: Blood
Observation 45:
Tissue: Blood
Observation 46:
Tissue: Blood
Observation 47:
Tissue: Blood
Observation 48:
Tissue: Blood
Observation 49:
Tissue: Blood
Observation 50:
Tissue: Blood
Observation 51:
Tissue: Blood
Observation 52:
Tissue: Blood
Observation 53:
Tissue: Blood
Observation 54:
Tissue: Blood
Observation 55:
Tissue: Blood
Observation 56:
Tissue: Blood
Observation 57:
Tissue: Blood
Observation 58:
Tissue: Blood
Observation 59:
Tissue: Blood
Observation 60:
Tissue: Blood
Observation 61:
Tissue: Blood
Observation 62:
Tissue: Blood
Observation 63:
Tissue: Blood
Observation 64:
Tissue: Blood
Observation 65:
Tissue: Blood
Observation 66:
Tissue: Blood
Observation 67:
Tissue: Blood
Observation 68:
Tissue: Blood
Observation 69:
Tissue: Blood
Observation 70:
Tissue: Blood
Observation 71:
Tissue: Blood
Observation 72:
Tissue: Blood
Observation 73:
Tissue: Blood
Observation 74:
Tissue: Blood
Observation 75:
Tissue: Blood
Observation 76:
Tissue: Blood
Observation 77:
Tissue: Blood
Observation 78:
Tissue: Blood
Observation 79:
Tissue: Blood
Observation 80:
Tissue: Blood
Observation 81:
Tissue: Blood
Observation 82:
Tissue: Blood
Observation 83:
Tissue: Blood
Observation 84:
Tissue: Blood
Observation 85:
Tissue: Blood
Observation 86:
Tissue: Blood
Observation 87:
Tissue: Blood
Observation 88:
Tissue: Blood
Observation 89:
Tissue: Blood
Observation 90:
Tissue: Blood
Observation 91:
Tissue: Blood
Observation 92:
Tissue: Blood
Observation 93:
Tissue: Blood
Observation 94:
Tissue: Blood
Observation 95:
Tissue: Blood
Observation 96:
Tissue: Blood
Observation 97:
Tissue: Blood
Observation 98:
Tissue: Blood
Observation 99:
Tissue: Blood
Observation 100:
Tissue: Blood
Observation 101:
Tissue: Blood
Observation 102:
Tissue: Blood
Observation 103:
Tissue: Blood
Observation 104:
Tissue: Blood
Observation 105:
Tissue: Blood
Observation 106:
Tissue: Blood
Observation 107:
Tissue: Blood
Observation 108:
Tissue: Blood
Observation 109:
Tissue: Blood
Observation 110:
Tissue: Blood
Observation 111:
Tissue: Blood
Observation 112:
Tissue: Blood
Observation 113:
Tissue: Blood
Observation 114:
Tissue: Blood
Observation 115:
Tissue: Blood
Observation 116:
Tissue: Blood
Observation 117:
Tissue: Blood
Observation 118:
Tissue: Blood
Observation 119:
Tissue: Blood
Observation 120:
Tissue: Blood
Observation 121:
Tissue: Blood
Observation 122:
Tissue: Blood
Observation 123:
Tissue: Blood
Observation 124:
Tissue: Blood
Observation 125:
Tissue: Blood
Observation 126:
Tissue: Blood
Observation 127:
Tissue: Blood
Observation 128:
Tissue: Blood
Observation 129:
Tissue: Blood
Observation 130:
Tissue: Blood
Observation 131:
Tissue: Blood
Observation 132:
Tissue: Blood
Observation 133:
Tissue: Blood
Observation 134:
Tissue: Blood
Observation 135:
Tissue: Blood
Observation 136:
Tissue: Blood
Observation 137:
Tissue: Blood
Observation 138:
Tissue: Blood
Observation 139:
Tissue: Blood
Observation 140:
Tissue: Blood
Observation 141:
Tissue: Blood
Observation 142:
Tissue: Blood
Observation 143:
Tissue: Blood
Observation 144:
Tissue: Blood
Observation 145:
Tissue: Blood
Observation 146:
Tissue: Blood
Observation 147:
Tissue: Blood
Observation 148:
Tissue: Blood
Observation 149:
Tissue: Blood
Observation 150:
Tissue: Blood
Observation 151:
Tissue: Blood
Observation 152:
Tissue: Blood
Observation 153:
Tissue: Blood
Observation 154:
Tissue: Blood
Observation 155:
Tissue: Blood
Observation 156:
Tissue: Blood
Observation 157:
Tissue: Blood
Observation 158:
Tissue: Blood
Observation 159:
Tissue: Blood
Observation 160:
Tissue: Blood
Observation 161:
Tissue: Blood
Observation 162:
Tissue: Blood
Observation 163:
Tissue: Blood
Observation 164:
Tissue: Blood
Observation 165:
Tissue: Blood
Observation 166:
Tissue: Blood
Observation 167:
Tissue: Blood
Observation 168:
Tissue: Blood
Observation 169:
Tissue: Blood
Observation 170:
Tissue: Blood
Observation 171:
Tissue: Blood
Observation 172:
Tissue: Blood
Observation 173:
Tissue: Blood
Observation 174:
Tissue: Blood
Observation 175:
Tissue: Blood
Observation 176:
Tissue: Blood
Observation 177:
Tissue: Blood
Observation 178:
Tissue: Blood
Observation 179:
Tissue: Blood
Observation 180:
Tissue: Blood
Observation 181:
Tissue: Blood
Observation 182:
Tissue: Blood
Observation 183:
Tissue: Blood
Observation 184:
Tissue: Blood
Observation 185:
Tissue: Blood
Observation 186:
Tissue: Blood
Observation 187:
Tissue: Blood
Observation 188:
Tissue: Blood
Observation 189:
Tissue: Blood
Observation 190:
Tissue: Blood
Observation 191:
Tissue: Blood
Observation 192:
Tissue: Blood
Observation 193:
Tissue: Blood
Observation 194:
Tissue: Blood
Observation 195:
Tissue: Blood
Observation 196:
Tissue: Blood
Observation 197:
Tissue: Blood
Observation 198:
Tissue: Blood
Observation 199:
Tissue: Blood
Observation 200:
Tissue: Blood
Observation 201:
Tissue: Blood
Observation 202:
Tissue: Blood
Observation 203:
Tissue: Blood
Observation 204:
Tissue: Blood
Observation 205:
Tissue: Blood
Observation 206:
Tissue: Blood
Observation 207:
Tissue: Blood
Observation 208:
Tissue: Blood
Observation 209:
Tissue: Blood
Observation 210:
Tissue: Blood
Observation 211:
Tissue: Blood
Observation 212:
Tissue: Blood
Observation 213:
Tissue: Blood
Observation 214:
Tissue: Blood
Observation 215:
Tissue: Blood
Observation 216:
Tissue: Blood
Observation 217:
Tissue: Blood
Observation 218:
Tissue: Blood
Observation 219:
Tissue: Blood
Observation 220:
Tissue: Blood
Observation 221:
Tissue: Blood
Observation 222:
Tissue: Blood
Observation 223:
Tissue: Blood
Observation 224:
Tissue: Blood
Observation 225:
Tissue: Blood
Observation 226:
Tissue: Blood
Observation 227:
Tissue: Blood
Observation 228:
Tissue: Blood
Observation 229:
Tissue: Blood
Observation 230:
Tissue: Blood
Observation 231:
Tissue: Blood
Observation 232:
Tissue: Blood
Observation 233:
Tissue: Blood
Observation 234:
Tissue: Blood
Observation 235:
Tissue: Blood
Observation 236:
Tissue: Blood
Observation 237:
Tissue: Blood
Observation 238:
Tissue: Blood
Observation 239:
Tissue: Blood
Observation 240:
Tissue: Blood
Observation 241:
Tissue: Blood
Observation 242:
Tissue: Blood
Observation 243:
Tissue: Blood
Observation 244:
Tissue: Blood
Observation 245:
Tissue: Blood
Observation 246:
Tissue: Blood
Observation 247:
Tissue: Blood
Observation 248:
Tissue: Blood
Observation 249:
Tissue: Blood
Observation 250:
Tissue: Blood
Observation 251:
Tissue: Blood
Observation 252:
Tissue: Blood
Observation 253:
Tissue: Blood
Observation 254:
Tissue: Blood
Observation 255:
Tissue: Blood
Observation 256:
Tissue: Blood
Observation 257:
Tissue: Blood
Observation 258:
Tissue: Blood
Observation 259:
Tissue: Blood
Observation 260:
Tissue: Blood
Observation 261:
Tissue: Blood
Observation 262:
Tissue: Blood
Observation 263:
Tissue: Blood
Observation 264:
Tissue: Blood
Observation 265:
Tissue: Blood
Observation 266:
Tissue: Blood
Observation 267:
Tissue: Blood
Observation 268:
Tissue: Blood
Observation 269:
Tissue: Blood
Observation 270:
Tissue: Blood
Observation 271:
Tissue: Blood
Observation 272:
Tissue: Blood
Observation 273:
Tissue: Blood
Observation 274:
Tissue: Blood
Observation 275:
Tissue: Blood
Observation 276:
Tissue: Blood
Observation 277:
Tissue: Blood
Observation 278:
Tissue: Blood
Observation 279:
Tissue: Blood
Observation 280:
Tissue: Blood
Observation 281:
Tissue: Blood
Observation 282:
Tissue: Blood
Observation 283:
Tissue: Blood
Observation 284:
Tissue: Blood
Observation 285:
Tissue: Blood
Observation 286:
Tissue: Blood
Observation 287:
Tissue: Blood
Observation 288:
Tissue: Blood
Observation 289:
Tissue: Blood
Observation 290:
Tissue: Blood
Observation 291:
Tissue: Blood
Observation 292:
Tissue: Blood
Observation 293:
Tissue: Blood
Observation 294:
Tissue: Blood
Observation 295:
Tissue: Blood
Observation 296:
Tissue: Blood
Observation 297:
Tissue: Blood
Observation 298:
Tissue: Blood
Observation 299:
Tissue: Blood
Observation 300:
Tissue: Blood
Observation 301:
Tissue: Blood
Observation 302:
Tissue: Blood
Observation 303:
Tissue: Blood
Observation 304:
Tissue: Blood
Observation 305:
Tissue: Blood
Observation 306:
Tissue: Blood
Observation 307:
Tissue: Blood
Observation 308:
Tissue: Blood
Observation 309:
Tissue: Blood
Observation 310:
Tissue: Blood
Observation 311:
Tissue: Blood
Observation 312:
Tissue: Blood
Observation 313:
Tissue: Blood
Observation 314:
Tissue: Blood
Observation 315:
Tissue: Blood
Observation 316:
Tissue: Blood
Observation 317:
Tissue: Blood
Observation 318:
Tissue: Blood
Observation 319:
Tissue: Blood
Observation 320:
Tissue: Blood
Observation 321:
Tissue: Blood
Observation 322:
Tissue: Blood
Observation 323:
Tissue: Blood
Observation 324:
Tissue: Blood
Observation 325:
Tissue: Blood
Observation 326:
Tissue: Blood
Observation 327:
Tissue: Blood
Observation 328:
Tissue: Blood
Observation 329:
Tissue: Blood
Observation 330:
Tissue: Blood
Observation 331:
Tissue: Blood
Observation 332:
Tissue: Blood
Observation 333:
Tissue: Blood
Observation 334:
Tissue: Blood
Observation 335:
Tissue: Blood
Observation 336:
Tissue: Blood
Observation 337:
Tissue: Blood
Observation 338:
Tissue: Blood
Observation 339:
Tissue: Blood
Observation 340:
Tissue: Blood
Observation 341:
Tissue: Blood
Observation 342:
Tissue: Blood
Observation 343:
Tissue: Blood
Observation 344:
Tissue: Blood
Observation 345:
Tissue: Blood
Observation 346:
Tissue: Blood
Observation 347:
Tissue: Blood
Observation 348:
Tissue: Blood
Observation 349:
Tissue: Blood
Observation 350:
Tissue: Blood
Observation 351:
Tissue: Blood
Observation 352:
Tissue: Blood
Observation 353:
Tissue: Blood
Observation 354:
Tissue: Blood
Observation 355:
Tissue: Blood
Observation 356:
Tissue: Blood
Observation 357:
Tissue: Blood
Observation 358:
Tissue: Blood
Observation 359:
Tissue: Blood
Observation 360:
Tissue: Blood
Observation 361:
Tissue: Blood
Observation 362:
Tissue: Blood
Observation 363:
Tissue: Blood
Observation 364:
Tissue: Blood
Observation 365:
Tissue: Blood
Observation 366:
Tissue: Blood
Observation 367:
Tissue: Blood
Observation 368:
Tissue: Blood
Observation 369:
Tissue: Blood
Observation 370:
Tissue: Blood
Observation 371:
Tissue: Blood
Observation 372:
Tissue: Blood
Observation 373:
Tissue: Blood
Observation 374:
Tissue: Blood
Observation 375:
Tissue: Blood
Observation 376:
Tissue: Blood
Observation 377:
Tissue: Blood
Observation 378:
Tissue: Blood
Observation 379:
Tissue: Blood
Observation 380:
Tissue: Blood
Observation 381:
Tissue: Blood
Observation 382:
Tissue: Blood
Observation 383:
Tissue: Blood
Observation 384:
Tissue: Blood
Observation 385:
Tissue: Blood
Observation 386:
Tissue: Blood
Observation 387:
Tissue: Blood
Observation 388:
Tissue: Blood
Observation 389:
Tissue: Blood
Observation 390:
Tissue: Blood
Observation 391:
Tissue: Blood
Observation 392:
Tissue: Blood
Observation 393:
Tissue: Blood
Observation 394:
Tissue: Blood
Observation 395:
Tissue: Blood
Observation 396:
Tissue: Blood
Observation 397:
Tissue: Blood
Observation 398:
Tissue: Blood
Observation 399:
Tissue: Blood
Observation 400:
Tissue: Blood
Observation 401:
Tissue: Blood
Observation 402:
Tissue: Blood
Observation 403:
Tissue: Blood
Observation 404:
Tissue: Blood
Observation 405:
Tissue: Blood
Observation 406:
Tissue: Blood
Observation 407:
Tissue: Blood
Observation 408:
Tissue: Blood
Observation 409:
Tissue: Blood
Observation 410:
Tissue: Blood
Observation 411:
Tissue: Blood
Observation 412:
Tissue: Blood
Observation 413:
Tissue: Blood
Observation 414:
Tissue: Blood
Observation 415:
Tissue: Blood
Observation 416:
Tissue: Blood
Observation 417:
Tissue: Blood
Observation 418:
Tissue: Blood
Observation 419:
Tissue: Blood
Observation 420:
Tissue: Blood
Observation 421:
Tissue: Blood
Observation 422:
Tissue: Blood
Observation 423:
Tissue: Blood
Observation 424:
Tissue: Blood
Observation 425:
Tissue: Blood
Observation 426:
Tissue: Blood
Observation 427:
Tissue: Blood
Observation 428:
Tissue: Blood
Observation 429:
Tissue: Blood
Observation 430:
Tissue: Blood
Observation 431:
Tissue: Blood
Observation 432:
Tissue: Blood
Observation 433:
Tissue: Blood
Observation 434:
Tissue: Blood
Observation 435:
Tissue: Blood
Observation 436:
Tissue: Blood
Observation 437:
Tissue: Blood
Observation 438:
Tissue: Blood
Observation 439:
Tissue: Blood
Observation 440:
Tissue: Blood
Observation 441:
Tissue: Blood
Observation 442:
Tissue: Blood
Observation 443:
Tissue: Blood
Observation 444:
Tissue: Blood
Observation 445:
Tissue: Blood
Observation 446:
Tissue: Blood
Observation 447:
Tissue: Blood
Observation 448:
Tissue: Blood
Observation 449:
Tissue: Blood
Observation 450:
Tissue: Blood
Observation 451:
Tissue: Blood
Observation 452:
Tissue: Blood
Observation 453:
Tissue: Blood
Observation 454:
Tissue: Blood
Observation 455:
Tissue: Blood
Observation 456:
Tissue: Blood
Observation 457:
Tissue: Blood
Observation 458:
Tissue: Blood
Observation 459:
Tissue: Blood
Observation 460:
Tissue: Blood
Observation 461:
Tissue: Blood
Observation 462:
Tissue: Blood
Observation 463:
Tissue: Blood
Observation 464:
Tissue: Blood
Observation 465:
Tissue: Blood
Observation 466:
Tissue: Blood
Observation 467:
Tissue: Blood
Observation 468:
Tissue: Blood
Observation 469:
Tissue: Blood
Observation 470:
Tissue: Blood
Observation 471:
Tissue: Blood
Observation 472:
Tissue: Blood
Observation 473:
Tissue: Blood
Observation 474:
Tissue: Blood
Observation 475:
Tissue: Blood
Observation 476:
Tissue: Blood
Observation 477:
Tissue: Blood
Observation 478:
Tissue: Blood
Observation 479:
Tissue: Blood
Observation 480:
Tissue: Blood
Observation 481:
Tissue: Blood
Observation 482:
Tissue: Blood
Observation 483:
Tissue: Blood
Observation 484:
Tissue: Blood
Observation 485:
Tissue: Blood
Observation 486:
Tissue: Blood
Observation 487:
Tissue: Blood
Observation 488:
Tissue: Blood
Observation 489:
Tissue: Blood
Observation 490:
Tissue: Blood
Observation 491:
Tissue: Blood
Observation 492:
Tissue: Blood
Observation 493:
Tissue: Blood
Observation 494:
Tissue: Blood
Observation 495:
Tissue: Blood
Observation 496:
Tissue: Blood
Observation 497:
Tissue: Blood
Observation 498:
Tissue: Blood
|
|
Benign
(Feb 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hypertrophic cardiomyopathy
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001000211.6
First in ClinVar: Dec 17, 2019 Last updated: Feb 14, 2024 |
|
|
Benign
(Mar 19, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Cardiomyopathy
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000902532.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
|
|
Likely benign
(Apr 11, 2012)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: not provided
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000204282.5
First in ClinVar: Jan 31, 2015 Last updated: May 03, 2018 |
Number of individuals with the variant: 3163
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Clinical Genetics, Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001918390.1 First in ClinVar: Sep 25, 2021 Last updated: Sep 25, 2021 |
|
|
Likely benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001929276.1 First in ClinVar: Sep 25, 2021 Last updated: Sep 25, 2021 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001957546.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001742121.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
|
|
click to load more click to collapse |
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs7252610 ...
HelpRecord last updated Apr 20, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.