ClinVar Miner

Submissions for variant NM_004423.4(DVL3):c.1715-2A>G

dbSNP: rs869025216
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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 RCV000208665 SCV000257456 pathogenic Autosomal dominant Robinow syndrome 1 2015-12-01 criteria provided, single submitter research
OMIM RCV000210487 SCV000266580 pathogenic Autosomal dominant Robinow syndrome 3 2016-04-04 no assertion criteria provided literature only
GeneReviews RCV003126594 SCV003804173 not provided Autosomal dominant Robinow syndrome 2 no assertion provided literature only

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