ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4071C>T (p.Ala1357=)

gnomAD frequency: 0.00001  dbSNP: rs147328051
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001408188 SCV001610181 likely benign Hypertrophic cardiomyopathy 14 2024-07-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705752 SCV005211370 likely benign not provided criteria provided, single submitter not provided

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