Total submissions: 12
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Molecular Diagnostics Laboratory, |
RCV005251089 | SCV005902026 | likely benign | Hereditary cancer-predisposing syndrome | 2024-09-17 | criteria provided, single submitter | clinical testing | BP4, BP7 c.2487T>G located in exon 24 of the FANCI gene is predicted to result in no amino acid change, p.(Leu829=)(BP7).This variant is found in 183/73958, with a filter allele frequency of 0.25% at 99% confidence in the gnomAD v2.1.1 database (European non-Finnish non-cancer data set). The SpliceAI algorithm predicts no significant impact on splicing (BP4). In addition, the variant was also identified in the ClinVar database (3x benign, 6x likely benign, 1x uncertain significance). To our knowledge, neither clinical data nor functional studies have been reported for this variant. Based on currently available information, the variant c.2487T>G is classified as a likely benign variant according to ACMG guidelines. |
| ARUP Laboratories, |
RCV001121009 | SCV005877810 | benign | Fanconi anemia complementation group I | 2024-03-18 | criteria provided, single submitter | clinical testing | |
| KCCC/NGS Laboratory, |
RCV001121009 | SCV004015665 | benign | Fanconi anemia complementation group I | 2023-07-07 | criteria provided, single submitter | clinical testing | |
| Sema4, |
RCV000231441 | SCV002529823 | likely benign | Fanconi anemia | 2021-06-30 | criteria provided, single submitter | curation | |
| Ce |
RCV001532265 | SCV001747743 | likely benign | not provided | 2025-06-01 | criteria provided, single submitter | clinical testing | FANCI: BP4, BP7 |
| Illumina Laboratory Services, |
RCV001121009 | SCV001279542 | uncertain significance | Fanconi anemia complementation group I | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Labcorp Genetics |
RCV000231441 | SCV000285890 | benign | Fanconi anemia | 2025-02-02 | criteria provided, single submitter | clinical testing | |
| Genetic Services Laboratory, |
RCV000193501 | SCV000247353 | benign | not specified | 2021-05-26 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV003977514 | SCV004795232 | likely benign | FANCI-related disorder | 2020-02-17 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
| Genome Diagnostics Laboratory, |
RCV001532265 | SCV001978267 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
| Genome Diagnostics Laboratory, |
RCV001532265 | SCV001809378 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
| Laboratory of Diagnostic Genome Analysis, |
RCV001532265 | SCV001797982 | likely benign | not provided | no assertion criteria provided | clinical testing |