ClinVar Miner

Submissions for variant NM_013432.5(TONSL):c.1602_1612del (p.Ala536fs)

dbSNP: rs1586692058
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000790529 SCV000929861 pathogenic Sponastrime dysplasia 2019-07-24 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000790529 SCV001439035 likely pathogenic Sponastrime dysplasia no assertion criteria provided research

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