ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8727C>T (p.Asp2909=)

gnomAD frequency: 0.00006  dbSNP: rs201517365
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634118 SCV000755403 likely benign Cohen syndrome 2025-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432668 SCV004158272 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing VPS13B: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003918010 SCV004731637 likely benign VPS13B-related disorder 2019-05-10 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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