Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474415 | SCV000547783 | benign | Fanconi anemia | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV002293419 | SCV002010184 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000120940 | SCV002065177 | uncertain significance | not specified | 2019-06-26 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000474415 | SCV002535005 | likely benign | Fanconi anemia | 2021-05-14 | criteria provided, single submitter | curation | |
Gene |
RCV002293419 | SCV002586616 | uncertain significance | not provided | 2023-05-16 | criteria provided, single submitter | clinical testing | Identified in the heterozygous state in individuals with breast cancer, but familial segregation information was limited and additional clinical information was not included (Seal et al., 2003; Litim et al., 2013); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24728327, 14695169, 23021409) |
Ce |
RCV002293419 | SCV004143596 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | FANCA: BP4 |
St. |
RCV003444203 | SCV004171525 | uncertain significance | Fanconi anemia complementation group A | 2023-10-31 | criteria provided, single submitter | clinical testing | The FANCA c.3427C>G (p.Leu1143Val) missense change has a maximum non-founder subpopulation frequency of 0.070% 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 role of this variant in Fanconi anemia. It has therefore been classified as of uncertain significance. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002293419 | SCV004218560 | likely benign | not provided | 2023-03-08 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV002293419 | SCV004224281 | uncertain significance | not provided | 2023-01-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965014 | SCV004782351 | likely benign | FANCA-related condition | 2022-03-09 | criteria provided, single submitter | 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). |
ITMI | RCV000120940 | SCV000085108 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |