Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000952022 | SCV001098487 | likely benign | Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001336787 | SCV001530282 | uncertain significance | Progressive myoclonic epilepsy type 9 | 2018-03-02 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |