ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1179del (p.Trp394fs)

dbSNP: rs1955074882
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262418 SCV001440282 pathogenic Exostoses, multiple, type 2 2019-01-01 criteria provided, single submitter clinical testing

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