Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703852 | SCV000525343 | benign | not provided | 2019-01-29 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000576218 | SCV000677071 | benign | Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000426728 | SCV001475955 | benign | not specified | 2024-07-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004533030 | SCV004735941 | benign | PLEC-related disorder | 2019-04-22 | 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). |