Submissions for variant NM_000130.5(F5):c.2573A>G (p.Lys858Arg)

gnomAD frequency: 0.24159  dbSNP: rs4524

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242831	SCV000302416	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000351409	SCV000350984	likely benign	Thrombophilia due to activated protein C resistance	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). 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.
CeGaT Center for Human Genetics Tuebingen	RCV000994174	SCV001147524	uncertain significance	not provided	2016-10-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000994174	SCV001859433	benign	not provided	2018-11-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20124536, 17284699, 25772935)
Labcorp Genetics (formerly Invitae), Labcorp	RCV003761846	SCV004390514	benign	Congenital factor V deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000242831	SCV001739590	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000242831	SCV001951479	benign	not specified		no assertion criteria provided	clinical testing