Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078880 | SCV000110740 | likely benign | not specified | 2017-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000078880 | SCV000717651 | likely benign | not specified | 2017-03-29 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV001089103 | SCV000770427 | 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 | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000648607 | SCV001145089 | benign | not provided | 2018-09-12 | criteria provided, single submitter | clinical testing |