Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000349059 | SCV000338514 | uncertain significance | not provided | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086252 | SCV001014179 | 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 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000349059 | SCV001334921 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |
Gene |
RCV000349059 | SCV001801079 | likely benign | not provided | 2021-02-25 | criteria provided, single submitter | clinical testing |