Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000232327 | SCV000283586 | likely benign | Fanconi anemia | 2024-07-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001722206 | SCV000512962 | likely benign | not provided | 2019-06-04 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000988222 | SCV001137859 | likely benign | Fanconi anemia complementation group A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001012621 | SCV001173097 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-02-23 | criteria provided, single submitter | clinical testing | The c.166-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 2 in the FANCC gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001722206 | SCV005625586 | uncertain significance | not provided | 2024-08-06 | criteria provided, single submitter | clinical testing | The FANCC c.166-5C>T variant has not been reported in individuals with FANCC-related conditions in the published literature. The frequency of this variant in the general population, 0.00023 (8/34540 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. |