Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000829899 | SCV000971631 | benign | not provided | 2018-06-14 | 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. |
Genome- |
RCV001538066 | SCV001755080 | benign | Neuronal ceroid lipofuscinosis 2 | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001538067 | SCV001755081 | benign | Autosomal recessive spinocerebellar ataxia 7 | 2021-07-10 | criteria provided, single submitter | clinical testing |