Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000499688 | SCV000594723 | uncertain significance | not specified | 2017-04-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000550556 | SCV000626309 | likely benign | Fanconi anemia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001293992 | SCV001482734 | uncertain significance | Fanconi anemia complementation group I | 2019-07-05 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |