ClinVar Miner

Submissions for variant NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg) (rs1558337060)

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Total submissions: 1
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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 Dandy-Walker like malformation with atrioventricular septal defect; Syndrome with a Dandy-Walker malformation as major feature 2019-02-18 no assertion criteria provided research

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