ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9786G>A (p.Glu3262=)

gnomAD frequency: 0.00004  dbSNP: rs138221649
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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 RCV001395911 SCV001597630 likely benign Cohen syndrome 2023-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384566 SCV002689338 likely benign Inborn genetic diseases 2020-08-31 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 RCV003928880 SCV004738251 likely benign VPS13B-related disorder 2021-08-19 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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