Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000791641 | SCV000930899 | benign | Fanconi anemia | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001759486 | SCV001988364 | uncertain significance | not provided | 2022-04-06 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with pancreatic cancer or pediatric lymphoma and in healthy individuals undergoing whole exome sequencing (Shindo 2017, Pritchard 2018, Hu 2020, Ryland 2020); This variant is associated with the following publications: (PMID: 28767289, 32659497, 31942822, 29641532) |
Fulgent Genetics, |
RCV001274662 | SCV002786896 | uncertain significance | Fanconi anemia complementation group A | 2022-03-31 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274662 | SCV001459016 | uncertain significance | Fanconi anemia complementation group A | 2020-09-16 | no assertion criteria provided | clinical testing |