ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.624del (p.Phe209fs)

dbSNP: rs2130042609
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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 RCV001810535 SCV002059949 likely pathogenic Multiple congenital exostosis 2022-01-14 criteria provided, single submitter clinical testing PVS1 + PM2

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