ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2547G>A (p.Lys849=)

gnomAD frequency: 0.00001  dbSNP: rs770629886
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256740 SCV001433146 benign not specified 2020-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002064830 SCV002421743 likely benign Hypertrophic cardiomyopathy 14 2024-02-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027869 SCV005018959 likely benign Cardiovascular phenotype 2024-02-16 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.
Breakthrough Genomics, Breakthrough Genomics RCV004704254 SCV005211381 likely benign not provided criteria provided, single submitter not provided

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