Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078841 | SCV000110701 | benign | not specified | 2013-10-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000078841 | SCV000529150 | benign | not specified | 2016-10-19 | 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 |
RCV000551388 | SCV000650158 | 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 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001795057 | SCV002545644 | likely benign | not provided | 2024-09-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7, BS2 |
Breakthrough Genomics, |
RCV001795057 | SCV005267404 | benign | not provided | criteria provided, single submitter | not provided | ||
Athena Diagnostics | RCV000078841 | SCV005620969 | benign | not specified | 2023-12-15 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001795057 | SCV002034932 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001795057 | SCV002035431 | likely benign | not provided | no assertion criteria provided | clinical testing |