Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000950979 | SCV001097326 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960623 | SCV004768348 | likely benign | CAPN3-related condition | 2023-05-04 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV000950979 | SCV001456722 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2020-04-17 | no assertion criteria provided | clinical testing |