ClinVar Miner

Submissions for variant NM_001330311.2(DVL1):c.1690del (p.Ser564fs)

dbSNP: rs797044837
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Total submissions: 2
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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 RCV000193819 SCV000256690 pathogenic Autosomal dominant Robinow syndrome 2 2015-03-26 criteria provided, single submitter research
GeneReviews RCV000193819 SCV000243851 not provided Autosomal dominant Robinow syndrome 2 no assertion provided literature only

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