ClinVar Miner

Submissions for variant NM_031296.3(RAB33B):c.186del (p.Glu63fs)

dbSNP: rs1561002040
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr Meenakshi Bhat Group, Centre for Human Genetics RCV000735865 SCV000777888 likely pathogenic Smith-McCort dysplasia 2 2016-12-05 criteria provided, single submitter research
Medgenome Labs Pvt Ltd RCV000735865 SCV001519336 pathogenic Smith-McCort dysplasia 2 2021-01-21 criteria provided, single submitter research

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