Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000116253 | SCV000529532 | benign | not specified | 2016-11-10 | 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. |
Invitae | RCV001081225 | SCV000653868 | benign | Congenital myasthenic syndrome 8 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000545898 | SCV001142972 | benign | not provided | 2019-03-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003915133 | SCV004731916 | benign | AGRN-related condition | 2019-03-29 | 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, |
RCV000116253 | SCV000150171 | 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. |