ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3628G>T (p.Asp1210Tyr)

dbSNP: rs145417421
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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) RCV000081894 SCV000113829 uncertain significance not provided 2012-11-14 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003388827 SCV004100769 uncertain significance Cohen syndrome 2023-10-12 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,PP3
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504808 SCV000598901 uncertain significance Abnormality of the eye 2015-01-01 no assertion criteria provided research

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