Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000118202 | SCV000521941 | benign | not specified | 2016-03-10 | 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- |
RCV001795182 | SCV002032868 | benign | Microcephalic primordial dwarfism due to RTTN deficiency | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002055301 | SCV002402946 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003982890 | SCV004796260 | benign | RTTN-related condition | 2019-04-17 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genetic Services Laboratory, |
RCV000118202 | SCV000152561 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. |