ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.263G>A (p.Cys88Tyr)

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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 RCV003484581 SCV004229139 pathogenic Thrombophilia due to protein S deficiency, autosomal dominant 2023-12-14 criteria provided, single submitter clinical testing

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