Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001050638 | SCV001214757 | likely benign | Fanconi anemia | 2025-01-23 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001331009 | SCV001522902 | uncertain significance | Fanconi anemia complementation group A | 2020-11-20 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002479313 | SCV002774560 | uncertain significance | not provided | 2021-07-20 | criteria provided, single submitter | clinical testing | |
St. |
RCV001331009 | SCV005402112 | uncertain significance | Fanconi anemia complementation group A | 2023-12-25 | criteria provided, single submitter | clinical testing | The FANCA c.437C>G (p.Ser146Cys) missense change has a maximum subpopulation frequency of 0.1% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Fanconi anemia. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance. |
Genomic Medicine Center of Excellence, |
RCV001331009 | SCV005442215 | uncertain significance | Fanconi anemia complementation group A | 2024-12-19 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001331009 | SCV005639551 | uncertain significance | Fanconi anemia complementation group A | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001050638 | SCV002090766 | uncertain significance | Fanconi anemia | 2020-01-17 | no assertion criteria provided | clinical testing |