ClinVar Miner

Submissions for variant NM_000128.3(F11):c.1305-9G>T (rs4253426)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000339440 SCV000340764 likely benign not specified 2016-04-01 criteria provided, single submitter clinical testing
Invitae RCV000948289 SCV001094491 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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

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