Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000862980 | SCV001003563 | benign | Fanconi anemia | 2025-01-24 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816951 | SCV002065188 | likely benign | not specified | 2019-06-26 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000862980 | SCV002534993 | benign | Fanconi anemia | 2020-10-23 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV004973042 | SCV005584561 | likely benign | Inborn genetic diseases | 2024-10-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Natera, |
RCV001276505 | SCV001462884 | benign | Fanconi anemia complementation group A | 2020-09-16 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003975390 | SCV004789347 | likely benign | FANCA-related disorder | 2019-10-11 | 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). |