ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11834G>A (p.Ser3945Asn)

dbSNP: rs1209045692
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061151 SCV001225884 uncertain significance Cohen syndrome 2021-08-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001061151 SCV002084998 uncertain significance Cohen syndrome 2021-01-06 no assertion criteria provided clinical testing

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