ClinVar Miner

Submissions for variant NM_001330311.2(DVL1):c.1580_1592del (p.His527fs)

dbSNP: rs797044834
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000193850 SCV000256687 pathogenic Autosomal dominant Robinow syndrome 2 2017-06-01 criteria provided, single submitter research
OMIM RCV000193850 SCV000222659 pathogenic Autosomal dominant Robinow syndrome 2 2015-04-02 no assertion criteria provided literature only
GeneReviews RCV000193850 SCV000243848 not provided Autosomal dominant Robinow syndrome 2 no assertion provided literature only

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