ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) (rs149112292)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000431238 SCV000510988 likely benign not provided 2017-05-08 criteria provided, single submitter clinical testing
Invitae RCV001080884 SCV000558886 likely benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001120358 SCV001278839 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.

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