Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000490505 | SCV000267386 | uncertain significance | Donnai-Barrow syndrome | 2016-03-18 | criteria provided, single submitter | reference population | |
Illumina Laboratory Services, |
RCV000391744 | SCV000464511 | likely benign | Disorders of Intracellular Cobalamin Metabolism | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000542590 | SCV000640285 | benign | Methylmalonic aciduria and homocystinuria type cblF | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705185 | SCV000729697 | benign | not provided | 2018-05-17 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000542590 | SCV004564663 | benign | Methylmalonic aciduria and homocystinuria type cblF | 2023-08-21 | criteria provided, single submitter | clinical testing |