Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725461 | SCV000700981 | uncertain significance | not provided | 2017-05-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000594610 | SCV000716184 | likely benign | not specified | 2017-02-27 | 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. |
Invitae | RCV001459051 | SCV001662884 | 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 | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000725461 | SCV002821914 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |