Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725458 | SCV000337104 | uncertain significance | not provided | 2016-09-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725458 | SCV000532079 | likely benign | not provided | 2019-09-30 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001080163 | SCV000650329 | 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 | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000725458 | SCV002545647 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |