Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593808 | SCV000707783 | uncertain significance | not provided | 2017-12-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079250 | SCV001063589 | likely benign | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000593808 | SCV004698766 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | HSD17B4: BP4, BP7 |