ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.849G>A (p.Glu283=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV003481706 SCV004226134 uncertain significance not provided 2022-12-21 criteria provided, single submitter clinical testing PP3, PM2, PS4_moderate
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV005002024 SCV005627700 likely pathogenic Thrombophilia due to protein S deficiency, autosomal dominant 2024-09-06 criteria provided, single submitter clinical testing

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