Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000712726 | SCV000700962 | uncertain significance | not provided | 2018-09-12 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712726 | SCV000843248 | likely benign | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084463 | SCV001005970 | 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 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000712726 | SCV004156390 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |