ClinVar Miner

Submissions for variant NM_000128.3(F11):c.731A>G (p.Gln244Arg) (rs5969)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852201 SCV000899890 uncertain significance Hereditary factor XI deficiency disease 2019-02-01 criteria provided, single submitter research
Invitae RCV000910039 SCV001054882 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000852201 SCV001308515 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Natera, Inc. RCV001275729 SCV001461158 likely benign Plasma factor XI deficiency 2020-04-20 no assertion criteria provided clinical testing

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