Submissions for variant NM_000312.4(PROC):c.793C>T (p.Leu265Phe)

dbSNP: rs121918156

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000851884	SCV000899933	likely pathogenic	Deep venous thrombosis	2019-02-01	criteria provided, single submitter	research
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000851885	SCV000899934	likely pathogenic	Reduced protein C activity	2019-02-01	criteria provided, single submitter	research
Illumina Laboratory Services, Illumina	RCV001132310	SCV001291967	uncertain significance	Thrombophilia due to protein C deficiency, autosomal dominant	2017-04-27	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	RCV001132310	SCV004013037	likely pathogenic	Thrombophilia due to protein C deficiency, autosomal dominant		criteria provided, single submitter	clinical testing
OMIM	RCV000000710	SCV000020860	pathogenic	Thrombophilia due to protein C deficiency, autosomal recessive	1993-11-15	no assertion criteria provided	literature only