Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001334370 | SCV001527195 | uncertain significance | Glycogen storage disease IXc | 2018-10-11 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001334370 | SCV004687656 | likely benign | Glycogen storage disease IXc | 2024-01-24 | criteria provided, single submitter | clinical testing |