ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.248+7C>A

gnomAD frequency: 0.00255  dbSNP: rs186563531
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000465264 SCV000462659 benign Fanconi anemia complementation group E 2018-01-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000465264 SCV000558836 benign Fanconi anemia complementation group E 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821087 SCV002070657 likely benign not specified 2021-11-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257654 SCV002527955 likely benign Fanconi anemia 2021-04-26 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV000465264 SCV002794928 likely benign Fanconi anemia complementation group E 2021-08-20 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000465264 SCV004017673 benign Fanconi anemia complementation group E 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707155 SCV005225743 likely benign not provided criteria provided, single submitter not provided

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