ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4665C>T (p.His1555=)

dbSNP: rs373888186
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000840940 SCV000982889 likely benign not provided 2020-02-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171177 SCV001333869 likely benign Cardiomyopathy 2018-03-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001497474 SCV001702203 likely benign Hypertrophic cardiomyopathy 14 2020-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336740 SCV002638215 likely benign Cardiovascular phenotype 2019-03-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences RCV004735826 SCV005363840 likely benign MYH6-related disorder 2019-08-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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