ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.426C>G (p.Tyr142Ter)

dbSNP: rs569199683
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand RCV001034616 SCV001167671 pathogenic Exostoses, multiple, type 2 2020-03-11 criteria provided, single submitter clinical testing Null variant (nonsense) affecting gene EXT2, which is a known mechanism of disease (ACMG : PVS1 + PM2 + PP3).

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