Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117950 | SCV000152233 | likely benign | not specified | 2013-08-23 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726487 | SCV000345008 | uncertain significance | not provided | 2016-09-19 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000117950 | SCV000614604 | benign | not specified | 2020-07-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726487 | SCV000727107 | likely benign | not provided | 2019-03-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087438 | SCV000770389 | likely 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 | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000726487 | SCV004163430 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |