ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter)

dbSNP: rs120074154
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000002959 SCV000788995 likely pathogenic Cohen syndrome 2017-01-03 criteria provided, single submitter clinical testing
OMIM RCV000002959 SCV000023117 pathogenic Cohen syndrome 2004-07-01 no assertion criteria provided literature only

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