ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.969A>G (p.Gln323=)

gnomAD frequency: 0.00001  dbSNP: rs1443301786
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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 RCV002195324 SCV002355735 likely benign Cohen syndrome 2021-07-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004744246 SCV005342104 likely benign VPS13B-related disorder 2023-09-17 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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