Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000117975 | SCV000332044 | benign | not specified | 2015-07-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000117975 | SCV000514146 | benign | not specified | 2016-01-28 | 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 | RCV000525975 | SCV000650401 | 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 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000117975 | SCV001475385 | benign | not specified | 2020-01-21 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117975 | SCV000152283 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. |