Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001088419 | SCV000650201 | 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 | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727065 | SCV000705306 | uncertain significance | not provided | 2017-01-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727065 | SCV000723441 | likely benign | not provided | 2018-10-30 | criteria provided, single submitter | clinical testing |