ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr)

gnomAD frequency: 0.00061  dbSNP: rs73273219
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081877 SCV000113812 uncertain significance not provided 2012-11-20 criteria provided, single submitter clinical testing
Invitae RCV001080363 SCV001013940 likely benign Cohen syndrome 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336236 SCV002643613 likely benign Inborn genetic diseases 2024-06-11 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 RCV003925075 SCV004739679 likely benign VPS13B-related disorder 2022-04-05 criteria provided, single submitter 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).
Natera, Inc. RCV001080363 SCV001454490 likely benign Cohen syndrome 2019-11-11 no assertion criteria provided clinical testing

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