ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.349G>A (p.Glu117Lys) (rs397515470)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000056289 SCV000087459 pathogenic Baraitser-Winter syndrome 1 2013-09-01 no assertion criteria provided literature only
Department of Genetics,Robert DEBRE University Hospital RCV000056289 SCV000148639 pathogenic Baraitser-Winter syndrome 1 2014-04-15 no assertion criteria provided clinical testing
GeneReviews RCV000056289 SCV000257372 pathogenic Baraitser-Winter syndrome 1 2015-09-17 no assertion criteria provided literature only

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