ClinVar Miner

Submissions for variant NM_020884.7(MYH7B):c.2619C>T (p.Ala873=)

gnomAD frequency: 0.00038  dbSNP: rs201923299
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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 RCV002193447 SCV002483356 likely benign not provided 2024-05-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004750711 SCV005355384 likely benign MYH7B-related disorder 2024-08-19 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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