ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p22.1-21.3(chr7:6536635-7639607)x3
Germline
Classification
(1)
Likely benign
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
C1GALT1 | - | - |
GRCh38 GRCh37 |
28 | 70 | |
CCZ1B | - | - | - |
GRCh38 GRCh37 |
28 | 65 |
COL28A1 | - | - |
GRCh38 GRCh37 |
86 | 128 | |
GRID2IP | - | - |
GRCh38 GRCh37 |
126 | 184 | |
INTS15 | - | - | - |
GRCh38 GRCh37 |
9 | 52 |
MIOS | - | - |
GRCh38 GRCh37 |
45 | 83 | |
RSPH10B2 | - | - | - |
GRCh38 GRCh37 |
39 | 75 |
ZDHHC4 | - | - | - |
GRCh38 GRCh37 |
24 | 68 |
ZNF12 | - | - |
GRCh38 GRCh37 |
33 | 74 | |
ZNF316 | - | - | - |
GRCh38 GRCh37 |
2 | 45 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Mar 15, 2019 | RCV001005904.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022