Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000301612 | SCV000342913 | uncertain significance | not provided | 2016-06-09 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764729 | SCV000895864 | uncertain significance | Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855212 | SCV002138832 | likely benign | Zellweger spectrum disorders | 2024-01-13 | criteria provided, single submitter | clinical testing |