ClinVar Miner

Submissions for variant NM_021922.2(FANCE):c.1504G>A (p.Ala502Thr) (rs9462088)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000121019 SCV000313807 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000860473 SCV000462675 benign Fanconi anemia, complementation group E 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 RCV000121019 SCV000603580 benign not specified 2016-10-06 criteria provided, single submitter clinical testing
Invitae RCV000860473 SCV001000532 benign Fanconi anemia, complementation group E 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000121019 SCV000085187 not provided not specified 2013-09-19 no assertion provided reference population
Leiden Open Variation Database RCV000860473 SCV001364613 uncertain significance Fanconi anemia, complementation group E 2011-02-07 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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