Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000712735 | SCV000843257 | likely benign | not provided | 2018-05-09 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000712735 | SCV000855101 | uncertain significance | not provided | 2018-08-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001516909 | SCV001725282 | 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 | 2023-12-25 | criteria provided, single submitter | clinical testing |