Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000710176 | SCV000334503 | uncertain significance | not provided | 2015-08-18 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000710176 | SCV000614646 | likely benign | not provided | 2018-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000710176 | SCV000725422 | likely benign | not provided | 2020-08-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087405 | SCV000770430 | 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 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000710176 | SCV004156399 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |