Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000316432 | SCV000337264 | uncertain significance | not provided | 2018-02-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001088096 | SCV000677093 | 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 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000316432 | SCV001804915 | likely benign | not provided | 2019-12-12 | criteria provided, single submitter | clinical testing |