Submissions for variant NM_000128.4(F11):c.1304+12G>A

gnomAD frequency: 0.00295  dbSNP: rs116667976

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001151016	SCV001312113	likely benign	Hereditary factor XI deficiency disease	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.
Baylor Genetics	RCV001151016	SCV001530122	uncertain significance	Hereditary factor XI deficiency disease	2018-04-11	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513257	SCV001720849	benign	not provided	2024-10-21	criteria provided, single submitter	clinical testing
Mendelics	RCV002249739	SCV002517037	uncertain significance	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001828572	SCV002082946	benign	Plasma factor XI deficiency	2019-08-23	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003928751	SCV004743493	likely benign	F11-related disorder	2024-03-06	no assertion criteria provided	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).