ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7848A>G (p.Thr2616=)

gnomAD frequency: 0.00004  dbSNP: rs757256533
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001484329 SCV001688746 likely benign Cohen syndrome 2023-09-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004743522 SCV005367109 likely benign VPS13B-related disorder 2022-07-08 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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