Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000675463 | SCV000971583 | 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- |
RCV001538072 | SCV001755086 | benign | Neuronal ceroid lipofuscinosis 2 | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001538073 | SCV001755087 | benign | Autosomal recessive spinocerebellar ataxia 7 | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000675463 | SCV000801150 | benign | not provided | 2015-10-22 | no assertion criteria provided | clinical testing |