Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001274213 | SCV001636950 | likely benign | Mucopolysaccharidosis type 6 | 2022-10-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960548 | SCV004769846 | likely benign | ARSB-related disorder | 2019-02-21 | 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, |
RCV001274213 | SCV001458083 | uncertain significance | Mucopolysaccharidosis type 6 | 2020-01-24 | no assertion criteria provided | clinical testing |