Submissions for variant NM_000128.4(F11):c.1812G>T (p.Arg604=)

gnomAD frequency: 0.06917  dbSNP: rs5971

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000241920	SCV000302393	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000374661	SCV000448996	benign	Hereditary factor XI deficiency disease	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514371	SCV001722199	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000374661	SCV001762533	benign	Hereditary factor XI deficiency disease	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001514371	SCV001908941	benign	not provided	2021-05-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001514371	SCV005306669	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001828127	SCV002082956	benign	Plasma factor XI deficiency	2019-11-21	no assertion criteria provided	clinical testing