Submissions for variant NM_000128.4(F11):c.1305-9G>T

gnomAD frequency: 0.00153  dbSNP: rs4253426

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000339440	SCV000340764	likely benign	not specified	2016-04-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000948289	SCV001094491	benign	not provided	2024-03-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001144918	SCV001305539	uncertain significance	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). 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.
Natera, Inc.	RCV001273724	SCV001457106	benign	Plasma factor XI deficiency	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003957473	SCV004769795	likely benign	F11-related disorder	2023-03-20	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).