ClinVar Miner

Submissions for variant NM_013432.5(TONSL):c.2638_2647delinsGG (p.Arg880fs)

dbSNP: rs1586687279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000790530 SCV000929862 pathogenic Sponastrime dysplasia 2019-07-24 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000790530 SCV001439037 likely pathogenic Sponastrime dysplasia no assertion criteria provided research

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