ClinVar Miner

Submissions for variant NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg)

dbSNP: rs1558337060
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dobyns Lab, Seattle Children's Research Institute RCV000779635 SCV000916312 uncertain significance Ritscher-Schinzel syndrome 1; Syndrome with a Dandy-Walker malformation as major feature 2019-02-18 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001257985 SCV001434798 uncertain significance Dandy-Walker syndrome no assertion criteria provided research
OMIM RCV001542270 SCV001760948 pathogenic Ritscher-Schinzel syndrome 4 2021-07-22 no assertion criteria provided literature only

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