Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000614848 | SCV000719282 | likely benign | not specified | 2017-05-15 | 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 |
RCV001452819 | SCV001656492 | likely benign | Familial aplasia of the vermis | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV004597834 | SCV005093417 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | AHI1: BP4, BP7 |