ClinVar Miner

Submissions for variant NM_021922.2(FANCE):c.1028G>A (p.Arg343Gln) (rs45467798)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473518 SCV000558840 benign Fanconi anemia, complementation group E 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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.
ITMI RCV000121015 SCV000085183 not provided not specified 2013-09-19 no assertion provided reference population

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