ClinVar Miner

Submissions for variant NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter)

gnomAD frequency: 0.36260  dbSNP: rs1815739
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019974 SCV000040272 benign ACTININ, ALPHA-3 POLYMORPHISM 2008-03-01 no assertion criteria provided literature only
OMIM RCV000019975 SCV000040273 affects Actn3 deficiency 2008-03-01 no assertion criteria provided literature only
OMIM RCV000019976 SCV000040274 pathogenic Sprinting performance 2008-03-01 no assertion criteria provided literature only
OMIM RCV002482891 SCV002774881 pathogenic INCREASED COLD TOLERANCE 2008-03-01 no assertion criteria provided literature only

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