ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8793-7_8793-6delinsT

dbSNP: rs756641209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670423 SCV000795274 uncertain significance Cohen syndrome 2017-11-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907932 SCV004725585 likely benign VPS13B-related disorder 2023-12-21 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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