ClinVar Miner

Submissions for variant NM_025237.3(SOST):c.327C>A (p.Cys109Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept of Pediatric nervous, The Second Affiliated Hospital Zhejiang University School of Medicine RCV003334334 SCV004041808 likely pathogenic Sclerosteosis 1 criteria provided, single submitter clinical testing

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