Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000973977 | SCV001121774 | benign | Mucopolysaccharidosis type 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001545966 | SCV001765398 | likely benign | not provided | 2019-10-25 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000973977 | SCV001457279 | benign | Mucopolysaccharidosis type 1 | 2020-04-23 | no assertion criteria provided | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV001545966 | SCV001797990 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001701278 | SCV001919615 | benign | not specified | no assertion criteria provided | clinical testing | ||
Prevention |
RCV003936179 | SCV004756497 | benign | IDUA-related disorder | 2019-08-12 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |