ClinVar Genomic variation as it relates to human health
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
Variation ID: 43003 Accession: VCV000043003.29
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 14q11.2 14: 23417598 (GRCh38) [ NCBI UCSC ] 14: 23886807 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 Dec 6, 2014 Apr 20, 2024 Dec 9, 2021 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000257.4:c.4258C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000248.2:p.Arg1420Trp missense NC_000014.9:g.23417598G>A NC_000014.8:g.23886807G>A NG_007884.1:g.23064C>T LRG_384:g.23064C>T LRG_384t1:c.4258C>T P12883:p.Arg1420Trp - Protein change
- R1420W
- Other names
- NM_000257.3(MYH7):c.4258C>T
- NM_000257.4(MYH7):c.4258C>T
- Canonical SPDI
- NC_000014.9:23417597:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00001
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 | ||
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HI score
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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. |
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MYH7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
3578 | 4827 |
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. |
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Uncertain significance (1) |
no assertion criteria provided
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Jun 1, 2014 | RCV000148697.4 | |
Likely pathogenic (3) |
reviewed by expert panel
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Dec 9, 2021 | RCV000758078.8 | |
Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Jan 9, 2023 | RCV001185537.8 | |
Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Jun 14, 2023 | RCV001703872.8 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Jan 18, 2022 | RCV002504880.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 21, 2023 | RCV003333016.1 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 21, 2023 | RCV003333012.1 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 21, 2023 | RCV003333014.1 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 21, 2023 | RCV003333013.1 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 21, 2023 | RCV003333015.1 |
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. |
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Likely pathogenic
(Dec 09, 2021)
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reviewed by expert panel
Method: curation
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Hypertrophic cardiomyopathy
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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ClinGen Cardiomyopathy Variant Curation Expert Panel
Accession: SCV000564450.5
First in ClinVar: Dec 06, 2014 Last updated: Dec 25, 2021 |
Comment:
The NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) variant has been reported in >15 individuals with HCM, including 1 individual with an additional variant in another gene that may contribute … (more)
The NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) variant has been reported in >15 individuals with HCM, including 1 individual with an additional variant in another gene that may contribute to their disease (PS4_Strong; Van Driest 2004 PMID: 15358028; Millat 2010 PMID: 20624503; Millat 2010 PMID: 20800588; Teirlinck 2012 PMID:23140321; Zou 2013 PMID:23283745; Berge 2014 PMID: 24111713; Ntusi 2016 PMID: 27841901; Homburger 2016 PMID: 27247418; Walsh 2017 PMID:27532257; Ho 2018 PMID: 30297972; Gene Dx pers. comm.; Invitae pers. comm.; LMM pers. comm.; OMGL pers. comm.). This variant has also been identified in 0.0003% (FAF 95% CI; 2/113756) of European chromosomes by gnomAD v2.1.1 (PM2; https://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may impact the protein (PP3). In summary, this variant meets criteria to be classified as likely pathogenic for hypertrophic cardiomyopathy in an autosomal dominant manner. MYH7-specific ACMG/AMP criteria applied (PMID:29300372): PS4, PM2, PP3. (less)
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Likely pathogenic
(Jan 18, 2022)
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criteria provided, single submitter
Method: clinical testing
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MYH7-related skeletal myopathy
Myosin storage myopathy Hypertrophic cardiomyopathy 1 Myopathy, myosin storage, autosomal recessive Congenital myopathy 4A, autosomal dominant Myosin storage myopathy Dilated cardiomyopathy 1S
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002796123.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Likely pathogenic
(Mar 22, 2022)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV003838102.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
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Pathogenic
(Feb 21, 2023)
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criteria provided, single submitter
Method: clinical testing
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MYH7-related skeletal myopathy
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004041177.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
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Pathogenic
(Feb 21, 2023)
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criteria provided, single submitter
Method: clinical testing
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Dilated cardiomyopathy 1S
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004041176.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
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Pathogenic
(Feb 21, 2023)
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criteria provided, single submitter
Method: clinical testing
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Myopathy, myosin storage, autosomal recessive
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004041298.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
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Pathogenic
(Feb 21, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 1
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004041233.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
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Pathogenic
(Feb 21, 2023)
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criteria provided, single submitter
Method: clinical testing
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Myosin storage myopathy
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004041318.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
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Likely pathogenic
(Jan 09, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV001351780.3
First in ClinVar: Jun 22, 2020 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces arginine with tryptophan at codon 1420 in the LMM domain of the MYH7 protein. Computational prediction suggests that this variant may … (more)
This missense variant replaces arginine with tryptophan at codon 1420 in the LMM domain of the MYH7 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 15358028, 20624503, 23140321, 23283745, 27532257, 30297972, 35653365; Kassem et al. 2017). A different variant occurring at the same codon, p.Arg1420Gln, is a likely pathogenic mutation (Clinvar variation ID: 43004), indicating that arginine at this position is important for MYH7 protein function. This variant has been identified in 2/251476 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic. (less)
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Likely Pathogenic
(Oct 27, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000059548.6
First in ClinVar: May 03, 2013 Last updated: Apr 20, 2024 |
Comment:
The p.Arg1420Trp variant has been identified in at least 15 individuals with hypertrophic cardiomyopathy (HCM: Van Driest 2004 PMID: 15358028, Millat 2010 PMID: 20624503, Bortot … (more)
The p.Arg1420Trp variant has been identified in at least 15 individuals with hypertrophic cardiomyopathy (HCM: Van Driest 2004 PMID: 15358028, Millat 2010 PMID: 20624503, Bortot 2011 PMID: 21817903, Zou 2013 PMID: 23283745, Berge 2014 PMID: 24111713, Ntusi 2016 PMID: 27841901, O'Hare 2020 PMID: 33190526, LMM data). It has also been identified in 0.003% (2/68046) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org, v.3.1.2). Computational prediction tools and conservation analyses are consistent with pathogenicity. Another variant involving this codon (p.Arg1420Gln) has been identified in individuals with HCM and is classified as likely pathogenic by this laboratory. Additionally, this variant was classified as likely pathogenic on Dec 15, 2016 by the ClinGen-approved Cardiomyopathy expert panel (Variation ID: 43003). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant HCM. ACMG/AMP Criteria applied: PS4, PM2_Supporting, PM5_Supporting, PP3. (less)
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Likely pathogenic
(Aug 22, 2022)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002572220.1
First in ClinVar: Sep 17, 2022 Last updated: Sep 17, 2022 |
Comment:
Variant summary: MYH7 c.4258C>T (p.Arg1420Trp) results in a non-conservative amino acid change located in the Myosin tail domain (IPR002928) of the encoded protein sequence. Five … (more)
Variant summary: MYH7 c.4258C>T (p.Arg1420Trp) results in a non-conservative amino acid change located in the Myosin tail domain (IPR002928) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 7.9e-06 in 252916 control chromosomes (gnomAD and publication data). c.4258C>T has been reported in the literature in individuals affected with hypertrophic cardiomyopathy (VanDriest_2004, Millat_2010, Teirlinck_2012, Zou_2013, Berge_2013, Wang_2014, Ntusi_2016, Walsh_2017, Ko_2017, Ho_2018, OHare_2020). These data indicate that the variant is likely to be associated with disease. In addition, other missense variants at the same codon (R1420Q, R1420L) have been found in patients with hypertrophic cardiomyopathy in HGMD, indicating the arginine residue is critical for the protein function. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance (n=3) and likely pathogenic (n=2), including ClinGen Cardiomyopathy Variant Curation Expert Panel classified it as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. (less)
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Likely pathogenic
(Jun 14, 2023)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000208581.9
First in ClinVar: Feb 24, 2015 Last updated: Jun 24, 2023 |
Comment:
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; … (more)
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23299917, 24055113, 25637381, 18555187, 23403236, 25961035, 23283745, 22958901, 23447461, 15358028, 27247418, 27532257, 24111713, 29169752, 28971120, 21817903, 23140321, 37217627, 32419263, 35065800, 34601892, AlloubaM2022[Preprint], 33087929, 33190526, 34542152, 27841901, 28640247, 30297972, 35653365, 29300372, 20624503, 20800588) (less)
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Pathogenic
(Jan 09, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV001554903.4
First in ClinVar: Apr 13, 2021 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1420 of the MYH7 protein … (more)
This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1420 of the MYH7 protein (p.Arg1420Trp). This variant is present in population databases (rs145213771, gnomAD 0.0009%). This missense change has been observed in individuals with hypertrophic cardiomyopathy (PMID: 15358028, 20800588, 23283745, 24111713, 27247418, 27532257, 27841901, 29300372, 33190526). ClinVar contains an entry for this variant (Variation ID: 43003). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYH7 protein function with a positive predictive value of 95%. This variant disrupts the p.Arg1420 amino acid residue in MYH7. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 21817903, 26914223, 27247418; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
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Likely pathogenic
(Apr 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV004010267.6
First in ClinVar: Jul 16, 2023 Last updated: Apr 15, 2024 |
Comment:
MYH7: PM1, PM2, PM5, PP2, PP3, PS4:Supporting
Number of individuals with the variant: 1
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Uncertain significance
(Jun 01, 2014)
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no assertion criteria provided
Method: research
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Cardiomyopathy, hypertrophic
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190426.1 First in ClinVar: Dec 06, 2014 Last updated: Dec 06, 2014 |
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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
HelpTitle | Author | Journal | Year | Link |
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Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory. | Stava TT | European journal of preventive cardiology | 2022 | PMID: 35653365 |
Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality. | Patel AP | JAMA cardiology | 2022 | PMID: 35544052 |
A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank. | Park J | Human molecular genetics | 2022 | PMID: 34542152 |
Patients With Hypertrophic Cardiomyopathy Deemed Genotype Negative Based on Research Grade Genetic Analysis: Time for Repeat Diagnostic Testing With Next-Generation Sequencing. | O'Hare BJ | Circulation. Genomic and precision medicine | 2020 | PMID: 33190526 |
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy. | Walsh R | Genome medicine | 2019 | PMID: 30696458 |
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). | Ho CY | Circulation | 2018 | PMID: 30297972 |
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. | Kelly MA | Genetics in medicine : official journal of the American College of Medical Genetics | 2018 | PMID: 29300372 |
Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup. | Ko C | Genetics in medicine : official journal of the American College of Medical Genetics | 2018 | PMID: 28640247 |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | Walsh R | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 27532257 |
Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans. | Ntusi NA | Cardiovascular journal of Africa | 2016 | PMID: 27841901 |
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. | Homburger JR | Proceedings of the National Academy of Sciences of the United States of America | 2016 | PMID: 27247418 |
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. | Murphy SL | Journal of cardiovascular translational research | 2016 | PMID: 26914223 |
The sarcomeric M-region: a molecular command center for diverse cellular processes. | Hu LY | BioMed research international | 2015 | PMID: 25961035 |
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S | Genetics in medicine : official journal of the American College of Medical Genetics | 2015 | PMID: 25741868 |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Amendola LM | Genome research | 2015 | PMID: 25637381 |
Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. | Wang J | European journal of heart failure | 2014 | PMID: 25132132 |
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. | Lamont PJ | Human mutation | 2014 | PMID: 24664454 |
Genetics of hypertrophic cardiomyopathy in Norway. | Berge KE | Clinical genetics | 2014 | PMID: 24111713 |
Actionable, pathogenic incidental findings in 1,000 participants' exomes. | Dorschner MO | American journal of human genetics | 2013 | PMID: 24055113 |
Roadmap to determine the point mutations involved in cardiomyopathy disorder: a Bayesian approach. | Kumar A | Gene | 2013 | PMID: 23403236 |
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. | Andreasen C | European journal of human genetics : EJHG | 2013 | PMID: 23299917 |
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. | Zou Y | Molecular biology reports | 2013 | PMID: 23283745 |
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death. | Teirlinck CH | BMC medical genetics | 2012 | PMID: 23140321 |
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. | Bick AG | American journal of human genetics | 2012 | PMID: 22958901 |
High-throughput genotyping robot-assisted method for mutation detection in patients with hypertrophic cardiomyopathy. | Bortot B | Diagnostic molecular pathology : the American journal of surgical pathology, part B | 2011 | PMID: 21817903 |
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. | Millat G | Clinica chimica acta; international journal of clinical chemistry | 2010 | PMID: 20800588 |
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. | Millat G | European journal of medical genetics | 2010 | PMID: 20624503 |
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. | Van Driest SL | Journal of the American College of Cardiology | 2004 | PMID: 15358028 |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/6099dd89-541a-406f-bef7-323e5330bf7a | - | - | - | - |
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Text-mined citations for rs145213771 ...
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.