Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728758 | SCV000856371 | uncertain significance | not provided | 2017-08-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001428259 | SCV001630955 | likely benign | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing |