Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153733 | SCV000332200 | benign | not specified | 2015-06-16 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000153733 | SCV000614597 | benign | not specified | 2021-06-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000551868 | SCV000650148 | 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 | |
Gene |
RCV000153733 | SCV000732064 | benign | not specified | 2017-03-03 | 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. |
Breakthrough Genomics, |
RCV001795266 | SCV005267411 | benign | not provided | criteria provided, single submitter | not provided | ||
Genome Diagnostics Laboratory, |
RCV000153733 | SCV001929991 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000153733 | SCV001972023 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001795266 | SCV002036057 | likely benign | not provided | no assertion criteria provided | clinical testing |