Submissions for variant NM_000312.4(PROC):c.399C>T (p.Arg133=)

gnomAD frequency: 0.00427  dbSNP: rs200045749

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000368434	SCV000416361	likely benign	Thrombophilia due to protein C deficiency, autosomal dominant	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000368434	SCV000767458	benign	Thrombophilia due to protein C deficiency, autosomal dominant	2023-12-22	criteria provided, single submitter	clinical testing
Mendelics	RCV000368434	SCV001135946	benign	Thrombophilia due to protein C deficiency, autosomal dominant	2019-05-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003957703	SCV004772921	likely benign	PROC-related disorder	2021-04-06	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	RCV002244806	SCV002515554	benign	Reduced protein C activity		no assertion criteria provided	clinical testing