ClinVar Miner

Submissions for variant NM_013432.5(TONSL):c.866-1G>C

dbSNP: rs1424148372
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000791265 SCV000930549 uncertain significance TONSL-related disorder 2016-11-01 criteria provided, single submitter clinical testing This individual has been reported in PMID: 30773277 (family 7).
OMIM RCV000790532 SCV000929864 pathogenic Sponastrime dysplasia 2019-07-24 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001261767 SCV001439083 likely pathogenic Skeletal dysplaisia with extra-skeletal manifestations no assertion criteria provided research

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