ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7668C>T (p.Ser2556=)

gnomAD frequency: 0.00011  dbSNP: rs370903187
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000916613 SCV001061859 likely benign Cohen syndrome 2024-01-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933058 SCV004748318 likely benign VPS13B-related disorder 2022-05-05 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. RCV000916613 SCV001460400 uncertain significance Cohen syndrome 2020-02-13 no assertion criteria provided clinical testing

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