Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000544630 | SCV000656168 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001545845 | SCV001765253 | likely benign | not provided | 2020-06-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905468 | SCV004724521 | benign | COL12A1-related disorder | 2019-08-03 | 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). |