ClinVar Miner

Submissions for variant NM_001103.4(ACTN2):c.1025A>G (p.Glu342Gly)

dbSNP: rs1234368540
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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 RCV001921230 SCV002195520 likely benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2022-08-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503597 SCV002797660 uncertain significance Dilated cardiomyopathy 1AA; Myopathy, congenital, with structured cores and z-line abnormalities; Myopathy, distal, 6, adult-onset, autosomal dominant 2021-08-01 criteria provided, single submitter clinical testing

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