Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000324136 | SCV000334180 | uncertain significance | not provided | 2015-08-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001488357 | SCV001692871 | 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 | 2020-08-31 | criteria provided, single submitter | clinical testing |