ClinVar Miner

Submissions for variant NM_173472.2(FANCD2OS):c.44-7009G>C (rs745765337)

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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 RCV000504384 SCV000594694 uncertain significance not specified 2015-09-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001145655 SCV001306346 uncertain significance Fanconi anemia, complementation group D2 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). 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.
Invitae RCV001436216 SCV001639052 likely benign Fanconi anemia 2020-05-04 criteria provided, single submitter clinical testing

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