ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.360C>A (p.Cys120Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV005002117 SCV005627697 pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2024-11-12 criteria provided, single submitter clinical testing

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