ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3934+10dup

gnomAD frequency: 0.00001  dbSNP: rs755153673
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956235 SCV002239094 likely benign Fanconi anemia 2023-12-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478905 SCV004218591 uncertain significance not provided 2022-12-09 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000008 (2/251404 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect FANCA mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.

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