ClinVar Miner

Submissions for variant NM_002476.2(MYL4):c.566-4C>T

gnomAD frequency: 0.00019  dbSNP: rs2071439
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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 RCV000876029 SCV001018536 benign Atrial fibrillation, familial, 18 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948243 SCV004757435 likely benign MYL4-related disorder 2019-03-20 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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