ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.382G>C (p.Gly128Arg)

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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 RCV003484571 SCV004229128 likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2023-05-25 criteria provided, single submitter clinical testing

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