ClinVar Miner

Submissions for variant NM_013432.5(TONSL):c.329G>A (p.Trp110Ter)

dbSNP: rs1002531030
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000791263 SCV000930547 uncertain significance TONSL-related disorder 2016-11-04 criteria provided, single submitter clinical testing This individual has been reported in PMID: 30773277 (family 8).
University of Washington Center for Mendelian Genomics, University of Washington RCV001261768 SCV001439084 likely pathogenic Skeletal dysplaisia with extra-skeletal manifestations no assertion criteria provided research

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