ClinVar Miner

Submissions for variant NM_001103.4(ACTN2):c.21C>T (p.Gly7=)

dbSNP: rs1387972965
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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 RCV001346733 SCV001540959 likely benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2024-06-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486414 SCV002794411 uncertain significance Dilated cardiomyopathy 1AA; Myopathy, congenital, with structured cores and z-line abnormalities; Myopathy, distal, 6, adult-onset, autosomal dominant 2021-09-08 criteria provided, single submitter clinical testing

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