Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000327744 | SCV000337572 | uncertain significance | not provided | 2017-01-19 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000556243 | SCV000657411 | likely benign | Bethlem myopathy 1A | 2023-03-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000327744 | SCV000969157 | likely benign | not provided | 2018-05-23 | 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. |