ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3690T>C (p.Thr1230=)

gnomAD frequency: 0.00001  dbSNP: rs751715193
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176581 SCV000228258 uncertain significance not provided 2015-04-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056952 SCV002366795 likely benign Cohen syndrome 2024-03-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004742313 SCV005355809 likely benign VPS13B-related disorder 2022-03-16 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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