ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.137T>C (p.Leu46Pro)

gnomAD frequency: 0.00001  dbSNP: rs779469907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851694 SCV000899494 uncertain significance Protein S deficiency disease 2019-02-01 criteria provided, single submitter research
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV005001996 SCV005627699 likely pathogenic Thrombophilia due to protein S deficiency, autosomal dominant 2024-09-23 criteria provided, single submitter clinical testing

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