Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000117954 | SCV000304313 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000117954 | SCV000514133 | benign | not specified | 2016-03-29 | 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 |
RCV000576242 | SCV000677089 | 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 | RCV000117954 | SCV001475963 | benign | not specified | 2024-07-05 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004706535 | SCV005222348 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Genetic Services Laboratory, |
RCV000117954 | SCV000152239 | 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. |