ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.1212G>A (p.Gly404=)

gnomAD frequency: 0.00016  dbSNP: rs370637632
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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 RCV000645706 SCV000767457 likely benign Thrombophilia due to protein C deficiency, autosomal dominant 2025-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499100 SCV002805534 likely benign Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia due to protein C deficiency, autosomal dominant 2021-10-08 criteria provided, single submitter clinical testing

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