Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001335147 | SCV001528226 | uncertain significance | Mitochondrial complex I deficiency, nuclear type 1 | 2018-01-30 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV002070198 | SCV002457249 | likely benign | not provided | 2022-09-29 | criteria provided, single submitter | clinical testing |