Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591343 | SCV000706686 | uncertain significance | not provided | 2017-02-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001489316 | SCV001693858 | likely benign | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome | 2023-10-25 | criteria provided, single submitter | clinical testing |