ClinVar Miner

Submissions for variant NM_000133.3(F9):c.580A>G (p.Thr194Ala) (rs6048)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244191 SCV000302448 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000244191 SCV000339741 benign not specified 2016-02-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396693 SCV000481883 benign Hereditary factor IX 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282369 SCV000603534 benign none provided 2020-07-16 criteria provided, single submitter clinical testing
Invitae RCV001521358 SCV001730689 benign Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor IX defect 2020-11-25 criteria provided, single submitter clinical testing
OMIM RCV000011334 SCV000031565 protective Deep venous thrombosis, protection against 2009-05-01 no assertion criteria provided literature only
Natera, Inc. RCV000396693 SCV001458781 benign Hereditary factor IX deficiency disease 2020-09-16 no assertion criteria provided clinical testing

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