Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724943 | SCV000332612 | uncertain significance | not provided | 2017-03-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724943 | SCV000721616 | likely benign | not provided | 2021-09-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087284 | SCV001013450 | 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 | 2023-12-19 | criteria provided, single submitter | clinical testing |