ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2574C>T (p.Phe858=)

gnomAD frequency: 0.00011  dbSNP: rs148596692
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247272 SCV000320367 likely benign Cardiovascular phenotype 2015-10-22 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.
GeneDx RCV001582901 SCV001813063 likely benign not provided 2020-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059046 SCV002368101 likely benign Hypertrophic cardiomyopathy 14 2023-10-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265715 SCV002548235 likely benign not specified 2022-05-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001582901 SCV005211379 likely benign not provided criteria provided, single submitter not provided

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