Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078854 | SCV000110714 | benign | not specified | 2013-03-12 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000078854 | SCV000304318 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000078854 | SCV000581696 | benign | not specified | 2018-02-26 | 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 | RCV000576172 | SCV000677096 | 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 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000078854 | SCV001476758 | benign | not specified | 2020-06-25 | criteria provided, single submitter | clinical testing |