ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter)

dbSNP: rs1057516559
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411146 SCV000485870 likely pathogenic Cohen syndrome 2016-02-23 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000411146 SCV002583762 pathogenic Cohen syndrome 2022-07-20 criteria provided, single submitter clinical testing PVS1, PM2, PM3

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