ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.1028G>A (p.Arg343Gln)

gnomAD frequency: 0.00060  dbSNP: rs45467798
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000473518 SCV000558840 benign Fanconi anemia complementation group E 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000473518 SCV001314767 benign Fanconi anemia complementation group E 2017-05-06 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genetic Services Laboratory, University of Chicago RCV000121015 SCV002069823 benign not specified 2018-07-05 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000473518 SCV004017675 benign Fanconi anemia complementation group E 2023-07-07 criteria provided, single submitter clinical testing
ITMI RCV000121015 SCV000085183 not provided not specified 2013-09-19 no assertion provided reference population

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