ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2662G>A (p.Val888Ile)

gnomAD frequency: 0.00009  dbSNP: rs774863156
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204506 SCV001375715 likely benign Fanconi anemia 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480666 SCV002784806 uncertain significance Fanconi anemia complementation group A 2022-03-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478731 SCV004221977 uncertain significance not provided 2023-05-09 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in the published literature. The frequency of this variant in the general population, 0.00012 (3/24970 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
Natera, Inc. RCV001204506 SCV002092591 uncertain significance Fanconi anemia 2020-02-03 no assertion criteria provided clinical testing

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