ClinVar Miner

Submissions for variant NM_002476.2(MYL4):c.556A>T (p.Asn186Tyr)

gnomAD frequency: 0.00828  dbSNP: rs16941677
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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 RCV000545557 SCV000656683 benign Atrial fibrillation, familial, 18 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001692204 SCV001913527 benign not provided 2020-12-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692204 SCV005249322 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003935551 SCV004751503 benign MYL4-related disorder 2019-02-25 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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