Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724524 | SCV000229624 | uncertain significance | not provided | 2015-02-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724524 | SCV000528844 | likely benign | not provided | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000533228 | SCV000650136 | 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 | 2023-08-18 | criteria provided, single submitter | clinical testing |