ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1826+12C>T (rs183513839)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195264 SCV000247337 likely benign not specified 2015-07-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000195264 SCV000302467 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001120467 SCV001278951 benign Fanconi anemia, complementation group A 2017-04-27 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.

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