ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7188A>G (p.Val2396=)

gnomAD frequency: 0.00001  dbSNP: rs928101727
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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 RCV001415002 SCV001617151 likely benign Cohen syndrome 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004743465 SCV005353362 likely benign VPS13B-related disorder 2024-02-07 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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