ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4950-9A>G

gnomAD frequency: 0.00004  dbSNP: rs373474658
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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) RCV000724170 SCV000229559 uncertain significance not provided 2014-09-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000177657 SCV000616272 uncertain significance not specified 2016-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087644 SCV001098554 likely benign Cohen syndrome 2023-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917652 SCV004728008 likely benign VPS13B-related disorder 2021-06-29 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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