ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,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].
Invitae RCV001513257 SCV001720849 benign not provided 2020-12-06 criteria provided, single submitter clinical testing

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