ClinVar Miner

Submissions for variant NM_002476.2(MYL4):c.150C>T (p.Ala50=)

gnomAD frequency: 0.00057  dbSNP: rs143234546
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537236 SCV000656671 benign Atrial fibrillation, familial, 18 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001755907 SCV002006293 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962611 SCV004784588 likely benign MYL4-related disorder 2021-11-10 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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