ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp)

dbSNP: 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, Sultan Qaboos University RCV000002958 SCV000891564 likely pathogenic Cohen syndrome 2024-06-12 no assertion criteria provided curation

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