ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.444del (p.Ser149fs)

dbSNP: rs1182900059
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine RCV001375854 SCV001572781 likely pathogenic Multiple congenital exostosis no assertion criteria provided clinical testing

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