Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594416 | SCV000702874 | uncertain significance | not provided | 2016-11-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078634 | SCV000770467 | 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 | 2023-11-16 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001288291 | SCV001475284 | benign | not specified | 2019-10-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000594416 | SCV004163534 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |