ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.946C>T (p.Arg316Cys)

gnomAD frequency: 0.00001  dbSNP: rs373983977
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000148751 SCV000190488 uncertain significance Thrombophilia due to protein S deficiency, autosomal dominant 2014-06-01 no assertion criteria provided research

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