Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480216 | SCV000572566 | likely benign | not specified | 2016-12-28 | 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. |
Ce |
RCV000474109 | SCV001153951 | uncertain significance | not provided | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001475436 | SCV001679626 | likely benign | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 2020-08-31 | criteria provided, single submitter | clinical testing |