Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000512702 | SCV000335524 | uncertain significance | not provided | 2015-09-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000512702 | SCV000609330 | likely benign | not provided | 2020-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086751 | SCV000650249 | 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 | 2023-12-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000512702 | SCV000722152 | likely benign | not provided | 2021-06-11 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000512702 | SCV001145075 | likely benign | not provided | 2019-05-23 | criteria provided, single submitter | clinical testing |