Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000829947 | SCV000971679 | 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- |
RCV001789201 | SCV002031512 | benign | Charcot-Marie-Tooth disease type 2B2 | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789203 | SCV002031513 | benign | Ataxia - oculomotor apraxia type 4 | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789202 | SCV002031514 | benign | Microcephaly, seizures, and developmental delay | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000147360 | SCV000194735 | likely benign | not specified | no assertion criteria provided | clinical testing |