ClinVar Miner

Submissions for variant NM_020884.7(MYH7B):c.1548C>T (p.Phe516=)

gnomAD frequency: 0.00094  dbSNP: rs183060273
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000913169 SCV001058309 benign not provided 2023-12-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000913169 SCV004152629 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing MYH7B: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000913169 SCV005315632 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004751811 SCV005345166 likely benign MYH7B-related disorder 2024-07-24 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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