Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000870990 | SCV001012575 | likely benign | COG4-congenital disorder of glycosylation | 2023-10-29 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000870990 | SCV001522419 | uncertain significance | COG4-congenital disorder of glycosylation | 2019-01-20 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |