ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys)

gnomAD frequency: 0.00001  dbSNP: rs375895456
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052881 SCV001217116 likely benign Fanconi anemia 2023-08-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478679 SCV004221905 uncertain significance not provided 2023-01-05 criteria provided, single submitter clinical testing The frequency of this variant in the general population, 0.000018 (5/280386 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in healthy individuals (PMIDs: 29641532 (2018) and 32546565 (2021)). 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. RCV001052881 SCV002095069 uncertain significance Fanconi anemia 2020-10-05 no assertion criteria provided clinical testing

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