ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.608C>A (p.Thr203Lys) (rs281875327)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000022425 SCV000043714 pathogenic Baraitser-Winter Syndrome 2 2012-02-26 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059727 SCV000091297 not provided not provided no assertion provided not provided
GeneReviews RCV000022425 SCV000257382 pathogenic Baraitser-Winter Syndrome 2 2015-09-17 no assertion criteria provided literature only

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