Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000699108 | SCV000827803 | likely benign | Fanconi anemia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816722 | SCV002070132 | uncertain significance | not specified | 2020-02-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001276512 | SCV002790973 | uncertain significance | Fanconi anemia complementation group A | 2022-02-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003148833 | SCV003836952 | uncertain significance | not provided | 2022-08-29 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001276512 | SCV001462891 | uncertain significance | Fanconi anemia complementation group A | 2020-09-16 | no assertion criteria provided | clinical testing |