ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln)

gnomAD frequency: 0.00001  dbSNP: rs533701597
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178446 SCV000230525 uncertain significance not provided 2014-09-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084571 SCV001120808 likely benign Cohen syndrome 2024-12-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001084571 SCV001460397 benign Cohen syndrome 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003927662 SCV004741353 likely benign VPS13B-related disorder 2023-02-09 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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