Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652864 | SCV000774736 | benign | Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003937988 | SCV004761613 | benign | LMNB2-related condition | 2021-01-20 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |