Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729301 | SCV000856950 | uncertain significance | not provided | 2017-09-19 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002067093 | SCV002491656 | likely benign | Bethlem myopathy 1A | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535820 | SCV004725268 | likely benign | not specified | 2022-07-07 | 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). |