ClinVar Miner

Submissions for variant NM_001103.4(ACTN2):c.744C>T (p.Tyr248=)

gnomAD frequency: 0.00006  dbSNP: rs749565466
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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 RCV000464712 SCV000563573 likely benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2024-08-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001255573 SCV001432061 likely benign not specified 2020-08-30 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001255573 SCV001433243 benign not specified 2019-10-18 criteria provided, single submitter clinical testing

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