ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys)

gnomAD frequency: 0.00063  dbSNP: rs149243307
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205204 SCV000262245 benign Fanconi anemia 2021-12-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001115870 SCV001273885 benign Fanconi anemia complementation group I 2017-05-12 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001804945 SCV002050921 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV001804945 SCV002064652 benign not specified 2018-11-08 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000205204 SCV002529830 benign Fanconi anemia 2021-07-13 criteria provided, single submitter curation

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