Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002524940 | SCV003524935 | likely benign | not provided | 2022-08-12 | criteria provided, single submitter | clinical testing | |
Genome |
RCV000509099 | SCV000607022 | not provided | Combined oxidative phosphorylation defect type 24 | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |