Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724191 | SCV000229513 | uncertain significance | not provided | 2018-06-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085664 | SCV000650275 | 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 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724191 | SCV000716221 | likely benign | not provided | 2021-04-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000724191 | SCV002564025 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |