ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.263-4G>A

gnomAD frequency: 0.00024  dbSNP: rs373494631
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001416063 SCV001618233 likely benign Thrombophilia due to protein C deficiency, autosomal dominant 2023-12-15 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245714 SCV002515556 uncertain significance Reduced protein C activity no assertion criteria provided clinical testing

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