Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000616355 | SCV000714431 | likely benign | not specified | 2017-12-08 | 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. |
Eurofins Ntd Llc |
RCV000727819 | SCV000855242 | uncertain significance | not provided | 2018-07-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078776 | SCV001020526 | 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 | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000616355 | SCV001475969 | benign | not specified | 2020-03-04 | criteria provided, single submitter | clinical testing |