ClinVar Miner

Submissions for variant NM_000128.3(F11):c.429C>T (p.Asp143=) (rs5973)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249857 SCV000302395 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342197 SCV000448984 benign Hereditary factor XI deficiency disease 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000249857 SCV001652986 benign not specified 2020-07-03 criteria provided, single submitter clinical testing The p.Asp134Asp variant in F11 is classified as benign because it does not alter an amino acid residue, is not located within the splice consensus site, and computational splice prediction tools do not predict an impact on splicing. It has been identified in 15.2% (3789/24956) of African chromosomes by gnomAD ( ACMG/AMP Criteria applied: BA1, BP4, BP7.
Invitae RCV001523282 SCV001732960 benign not provided 2020-12-05 criteria provided, single submitter clinical testing

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