Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000320814 | SCV000343274 | benign | not specified | 2016-06-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000320814 | SCV000519356 | 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. |
Labcorp Genetics |
RCV002059254 | SCV002407869 | benign | Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004712237 | SCV005272700 | benign | not provided | criteria provided, single submitter | not provided |