ClinVar Miner

Submissions for variant NM_005151.4(USP14):c.233_236del (p.Leu78fs)

dbSNP: rs2144233064
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV002287499 SCV002578064 pathogenic See cases 2022-08-26 criteria provided, single submitter clinical testing ACMG categories: PVS1,PM2,PP3,PP5
Istanbul Faculty of Medicine, Istanbul University RCV001823201 SCV002028347 pathogenic Distal arthrogryposis and CNS involvement 2021-11-18 no assertion criteria provided clinical testing Identied in three affected fetuses
OMIM RCV003152626 SCV003841091 uncertain significance not provided 2023-01-31 no assertion criteria provided literature only

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