ClinVar Miner

Submissions for variant NM_031296.3(RAB33B):c.211C>T (p.Arg71Ter)

dbSNP: rs1085307128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000488447 SCV002053926 pathogenic Smith-McCort dysplasia 2 criteria provided, single submitter clinical testing
OMIM RCV000488447 SCV000575883 pathogenic Smith-McCort dysplasia 2 2017-05-10 no assertion criteria provided literature only

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