ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) (rs11549190)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000022424 SCV000043713 pathogenic Baraitser-Winter Syndrome 2 2012-02-26 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059725 SCV000091295 not provided not provided no assertion provided not provided
Department of Genetics,Robert DEBRE University Hospital RCV000022424 SCV000148647 pathogenic Baraitser-Winter Syndrome 2 2014-04-15 no assertion criteria provided clinical testing
GeneReviews RCV000022424 SCV000257380 pathogenic Baraitser-Winter Syndrome 2 2015-09-17 no assertion criteria provided literature only

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