Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726491 | SCV000345049 | uncertain significance | not provided | 2016-09-26 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000346335 | SCV000596513 | uncertain significance | not specified | 2016-08-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001079134 | SCV000649954 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001833408 | SCV002089606 | likely benign | Muscle eye brain disease | 2020-11-07 | no assertion criteria provided | clinical testing | |
Prevention |
RCV004543139 | SCV004783191 | likely benign | POMGNT1-related disorder | 2021-07-08 | no assertion criteria provided | 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). |