Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000974728 | SCV001122578 | likely benign | Transcobalamin II deficiency | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000974728 | SCV001525948 | uncertain significance | Transcobalamin II deficiency | 2018-11-21 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |