ClinVar Miner

Submissions for variant NM_001330311.2(DVL1):c.1687_1691dup (p.Ser564fs)

dbSNP: rs1553173372
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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 RCV000577899 SCV000583563 likely pathogenic Autosomal dominant Robinow syndrome 2 2017-06-01 criteria provided, single submitter research
Autoinflammatory diseases unit, CHU de Montpellier RCV000577899 SCV001438230 pathogenic Autosomal dominant Robinow syndrome 2 2016-04-26 no assertion criteria provided clinical testing

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