ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe) (rs281875326)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000022422 SCV000150146 pathogenic Baraitser-Winter Syndrome 2 2013-09-25 criteria provided, single submitter clinical testing
OMIM RCV000022422 SCV000043711 pathogenic Baraitser-Winter Syndrome 2 2012-02-26 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059726 SCV000091296 not provided not provided no assertion provided not provided
GeneReviews RCV000022422 SCV000257381 pathogenic Baraitser-Winter Syndrome 2 2015-09-17 no assertion criteria provided literature only

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