ClinVar Miner

Submissions for variant NM_031296.3(RAB33B):c.253C>T (p.Gln85Ter)

dbSNP: rs2111087458
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatric Genetics, Istanbul University - Cerrahpasa RCV001420350 SCV001622772 pathogenic Smith-McCort dysplasia 2 2021-05-17 no assertion criteria provided clinical testing
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001420350 SCV005873571 pathogenic Smith-McCort dysplasia 2 2023-09-04 no assertion criteria provided clinical testing

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