ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4504C>A (p.Arg1502=)

gnomAD frequency: 0.00001  dbSNP: rs773631723
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619627 SCV000740182 likely benign Cardiovascular phenotype 2017-06-30 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.
Fulgent Genetics, Fulgent Genetics RCV002477359 SCV002797412 likely benign Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-08-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005091797 SCV005767820 likely benign Hypertrophic cardiomyopathy 14 2024-12-27 criteria provided, single submitter clinical testing

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