Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704781 | SCV000729263 | likely benign | not provided | 2020-12-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001704781 | SCV003467907 | benign | not provided | 2022-04-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003343947 | SCV004048793 | likely benign | Mitochondrial complex 1 deficiency, nuclear type 6 | 2023-04-11 | criteria provided, single submitter | clinical testing |