Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001720230 | SCV000526298 | likely benign | not provided | 2018-08-15 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000444186 | SCV000614661 | benign | not specified | 2016-09-27 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000444186 | SCV000701001 | likely benign | not specified | 2016-09-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000648648 | SCV000770468 | 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 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002488928 | SCV002800577 | likely benign | Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; 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 | 2022-01-18 | criteria provided, single submitter | clinical testing |