ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10626G>A (p.Val3542=)

gnomAD frequency: 0.00005  dbSNP: rs139227281
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500758 SCV000597908 uncertain significance not specified 2017-04-10 criteria provided, single submitter clinical testing
Invitae RCV000923387 SCV001068858 likely benign Cohen syndrome 2023-11-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884586 SCV004700634 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing VPS13B: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003902800 SCV004725609 likely benign VPS13B-related disorder 2023-09-29 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).

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