ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6919G>A (p.Asp2307Asn)

dbSNP: rs1833105526
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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 RCV001212836 SCV001384436 uncertain significance Cohen syndrome 2021-08-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001212836 SCV002082629 uncertain significance Cohen syndrome 2020-03-17 no assertion criteria provided clinical testing

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