ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1206+19_1206+34del

dbSNP: rs750619814
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665383 SCV000789496 likely benign Cohen syndrome 2017-02-03 criteria provided, single submitter clinical testing
Invitae RCV000665383 SCV002468659 benign Cohen syndrome 2024-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945696 SCV004764711 likely benign VPS13B-related disorder 2022-01-26 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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