Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731703 | SCV000859551 | uncertain significance | not provided | 2018-02-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086847 | SCV001018883 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2D | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000731703 | SCV001880114 | uncertain significance | not provided | 2020-11-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938112 | SCV004747472 | likely benign | SGCA-related condition | 2024-01-23 | 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, |
RCV001086847 | SCV001463220 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2D | 2020-01-24 | no assertion criteria provided | clinical testing |