ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.4137C>T (p.Asp1379=)

gnomAD frequency: 0.00291  dbSNP: rs146070094
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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 RCV000873575 SCV001015589 likely benign not provided 2025-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530813 SCV004725673 benign MYH3-related disorder 2019-06-19 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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