ClinVar Miner

Submissions for variant NM_020884.7(MYH7B):c.5675C>T (p.Ala1892Val)

gnomAD frequency: 0.00754  dbSNP: rs61746160
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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 RCV000949438 SCV001095690 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004751830 SCV005365635 benign MYH7B-related disorder 2024-04-05 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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