ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2993T>G (p.Val998Gly)

dbSNP: rs892148263
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000794661 SCV000934082 uncertain significance Cohen syndrome 2021-08-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000794661 SCV002079545 uncertain significance Cohen syndrome 2020-12-10 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004742638 SCV005344218 uncertain significance VPS13B-related disorder 2024-01-02 no assertion criteria provided clinical testing The VPS13B c.2993T>G variant is predicted to result in the amino acid substitution p.Val998Gly. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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