ClinVar Miner

Submissions for variant NM_001615.4(ACTG2):c.187C>G (p.Arg63Gly)

dbSNP: rs864309491
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000202512 SCV000256733 pathogenic Visceral myopathy 1 2014-03-27 criteria provided, single submitter research
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000202512 SCV000693699 pathogenic Visceral myopathy 1 2016-12-20 criteria provided, single submitter clinical testing
GeneReviews RCV000202512 SCV001739283 not provided Visceral myopathy 1 no assertion provided literature only Insufficient data for genotype-phenotype correlations

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