ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7164C>T (p.Leu2388=)

gnomAD frequency: 0.00009  dbSNP: rs374136243
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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 RCV001455912 SCV001659682 likely benign Cohen syndrome 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377758 SCV002671886 likely benign Inborn genetic diseases 2018-11-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003908678 SCV004727309 likely benign VPS13B-related disorder 2023-11-16 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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