ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.921G>A (p.Met307Ile)

gnomAD frequency: 0.00041  dbSNP: rs140709787
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247141 SCV001420548 likely benign Cohen syndrome 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001751502 SCV001996759 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV001247141 SCV002816339 uncertain significance Cohen syndrome 2021-10-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938578 SCV004749114 likely benign VPS13B-related disorder 2023-02-22 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. RCV001247141 SCV002079452 uncertain significance Cohen syndrome 2020-01-24 no assertion criteria provided clinical testing

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