Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000361536 | SCV000332157 | uncertain significance | not provided | 2016-02-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079070 | SCV001091594 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2D | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955429 | SCV004777836 | likely benign | SGCA-related condition | 2023-08-30 | 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, |
RCV001079070 | SCV001453194 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2D | 2020-06-03 | no assertion criteria provided | clinical testing |