ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.684C>G (p.Cys228Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447747 SCV004175438 likely pathogenic Thrombophilia due to protein S deficiency, autosomal dominant 2021-12-23 criteria provided, single submitter clinical testing

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