ClinVar Miner

Submissions for variant NM_013432.5(TONSL):c.1837G>T (p.Val613Leu)

dbSNP: rs778625348
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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 RCV000791264 SCV000930548 uncertain significance TONSL-related condition 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 RCV001261771 SCV001439087 likely pathogenic Skeletal dysplaisia with extra-skeletal manifestations no assertion criteria provided research

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