ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) (rs281875328)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000022426 SCV000043715 pathogenic Baraitser-Winter Syndrome 2 2012-02-26 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059729 SCV000091299 not provided not provided no assertion provided not provided
GeneReviews RCV000022426 SCV000257383 pathogenic Baraitser-Winter Syndrome 2 2015-09-17 no assertion criteria provided literature only

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