ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.7934G>A (p.Gly2645Asp) (rs120074153)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002958 SCV000023116 pathogenic Cohen syndrome 2004-07-01 no assertion criteria provided literature only
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000002958 SCV000891564 uncertain significance Cohen syndrome 2017-12-30 no assertion criteria provided curation

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