ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.553C>A (p.Leu185Ile)

gnomAD frequency: 0.00003  dbSNP: rs587778323
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672751 SCV000797889 uncertain significance Fanconi anemia complementation group A 2018-02-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120961 SCV002065618 uncertain significance not specified 2019-09-27 criteria provided, single submitter clinical testing
Invitae RCV002055335 SCV002451374 likely benign Fanconi anemia 2024-01-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477512 SCV004218627 uncertain significance not provided 2023-08-18 criteria provided, single submitter clinical testing In the published literature, this variant has been reported in apparently healthy individuals (PMID: 24728327 (2014)). The frequency of this variant in the general population, 0.000004 (1/251444 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the 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.
ITMI RCV000120961 SCV000085129 not provided not specified 2013-09-19 no assertion provided reference population

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