Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731189 | SCV000858971 | uncertain significance | not provided | 2018-01-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001464214 | SCV001668180 | likely benign | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome | 2023-11-30 | criteria provided, single submitter | clinical testing |