ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) (rs281875329)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000022427 SCV000593030 pathogenic Baraitser-Winter Syndrome 2 2015-12-02 criteria provided, single submitter clinical testing
OMIM RCV000022427 SCV000043716 pathogenic Baraitser-Winter Syndrome 2 2012-02-26 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059730 SCV000091300 not provided not provided no assertion provided not provided
GeneReviews RCV000022427 SCV000257384 pathogenic Baraitser-Winter Syndrome 2 2015-09-17 no assertion criteria provided literature only
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000770804 SCV000902290 likely pathogenic Deafness, autosomal dominant 20 2019-02-26 no assertion criteria provided case-control

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