Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000228956 | SCV000285883 | benign | Fanconi anemia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001094276 | SCV000394198 | likely benign | 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Gene |
RCV000766508 | SCV000574041 | likely benign | not provided | 2020-07-14 | criteria provided, single submitter | clinical testing | • Observed in cohorts of individuals with a personal and/or family history of cancer; however, several of these individuals also harbored variants in other cancer-related genes and the variant was also observed in control individuals (Cabanillas et al., 2017; Chandrasekharappa et al., 2017; Girard et al., 2019) • Observed with another FANCI variant of uncertain significance in internal GeneDx whole exome sequencing data in association with aplastic anemia and tongue cancer • In silico analysis supports that this missense variant does not alter protein structure/function • Observed in apparent homozygous state in multiple unrelated individuals in large population cohorts (Lek et al., 2016) and in a healthy adult individual tested at GeneDx • We interpret M525V as a likely benign variant |
Genetic Services Laboratory, |
RCV000482252 | SCV000594715 | likely benign | not specified | 2021-01-08 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001094276 | SCV001482733 | uncertain significance | Fanconi anemia complementation group I | 2018-11-18 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Institute for Clinical Genetics, |
RCV000766508 | SCV002011547 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000228956 | SCV002529805 | benign | Fanconi anemia | 2020-11-02 | criteria provided, single submitter | curation | |
Center for Genomics, |
RCV001094276 | SCV003919934 | likely benign | Fanconi anemia complementation group I | 2022-06-07 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in association with hematological disease. This variant is present in the Genome Aggregation Databse (Highest MAF: 0.4% [275/68032], 5 homozygotes https://gnomad.broadinstitute.org/variant/15-89281825-A-G?dataset=gnomad_r3). This variant is also present in ClinVar (Variation ID: 238309). Evoluationary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign. |
Ce |
RCV000766508 | SCV004137597 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | FANCI: BP4, BS2 |