ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.70G>T (p.Gly24Ter)

dbSNP: rs1817893036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092146 SCV001248523 pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253631 SCV001429458 likely pathogenic Multiple congenital exostosis 2018-08-21 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002290596 SCV002580786 pathogenic Exostoses, multiple, type 1 2022-03-08 criteria provided, single submitter clinical testing

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