ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) (rs139160837)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466659 SCV000547759 benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000503748 SCV000594645 uncertain significance not specified 2016-10-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001118714 SCV001277017 uncertain significance 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001172102 SCV001335051 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing

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