ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.345+9_345+11del

dbSNP: rs1693164213
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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 RCV001410061 SCV001612103 likely benign Fanconi anemia 2020-09-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV005001219 SCV005625585 uncertain significance not provided 2024-01-22 criteria provided, single submitter clinical testing The FANCC c.345+9_345+11del variant has not been reported in individuals with FANCC-related conditions in the published literature. The frequency of this variant in the general population, 0.0000066 (1/152162 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the 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 FANCC mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.

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