ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8271G>A (p.Thr2757=)

gnomAD frequency: 0.00001  dbSNP: rs758044842
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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 RCV001400763 SCV001602572 likely benign Cohen syndrome 2024-08-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001400763 SCV002082676 likely benign Cohen syndrome 2020-05-06 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004743456 SCV005367660 likely benign VPS13B-related disorder 2024-04-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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