ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1296A>G (p.Thr432=)

gnomAD frequency: 0.00004  dbSNP: rs765163542
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180658 SCV000233137 uncertain significance not provided 2015-05-08 criteria provided, single submitter clinical testing
Invitae RCV001467520 SCV001671545 likely benign Cohen syndrome 2023-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000180658 SCV002586237 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing VPS13B: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003947540 SCV004759798 likely benign VPS13B-related disorder 2021-12-09 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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