ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2825-4T>A

gnomAD frequency: 0.00004  dbSNP: rs201354177
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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) RCV000312428 SCV000337855 uncertain significance not provided 2015-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085223 SCV001031418 benign Cohen syndrome 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003909971 SCV004724784 likely benign VPS13B-related disorder 2020-07-29 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).
Natera, Inc. RCV001085223 SCV001456258 likely benign Cohen syndrome 2020-01-08 no assertion criteria provided clinical testing

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