ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3443T>G (p.Leu1148Arg)

gnomAD frequency: 0.00001  dbSNP: rs1043718711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001119130 SCV001277476 uncertain significance Fanconi anemia complementation group I 2017-04-28 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genetic Services Laboratory, University of Chicago RCV001819829 SCV002064566 uncertain significance not specified 2019-06-13 criteria provided, single submitter clinical testing

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