Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000876517 | SCV001019097 | 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 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003438539 | SCV004163507 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |