Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001335494 | SCV001528654 | uncertain significance | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2018-02-09 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001335494 | SCV002363075 | likely benign | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2022-11-17 | criteria provided, single submitter | clinical testing |