Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000712751 | SCV000843275 | benign | not provided | 2017-10-31 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727729 | SCV000855086 | likely benign | not specified | 2018-02-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087162 | SCV001016812 | 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 |