Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704965 | SCV000238908 | likely benign | not provided | 2019-04-16 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26334177) |
Invitae | RCV000634883 | SCV000756244 | benign | Holocarboxylase synthetase deficiency | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000634883 | SCV002083744 | benign | Holocarboxylase synthetase deficiency | 2019-12-13 | no assertion criteria provided | clinical testing |