ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3993C>T (p.His1331=)

gnomAD frequency: 0.00004  dbSNP: rs200288088
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000168899 SCV000170530 benign not specified 2013-09-20 criteria provided, single submitter clinical testing 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000168899 SCV000710881 likely benign not specified 2016-04-14 criteria provided, single submitter clinical testing p.His1331His in exon 30 of MYH7: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence.
Color Diagnostics, LLC DBA Color Health RCV000771905 SCV000904669 likely benign Cardiomyopathy 2018-08-31 criteria provided, single submitter clinical testing
Invitae RCV000863815 SCV001004533 likely benign Hypertrophic cardiomyopathy 2024-01-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000771905 SCV001333900 benign Cardiomyopathy 2017-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371966 SCV002625019 likely benign Cardiovascular phenotype 2022-08-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001701610 SCV004129088 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing MYH7: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701610 SCV001929551 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000168899 SCV001958413 benign not specified no assertion criteria provided clinical testing

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