Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000712251 | SCV000842696 | benign | not provided | 2017-11-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000712251 | SCV001001231 | benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000712251 | SCV002004713 | likely benign | not provided | 2021-03-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905122 | SCV004733371 | benign | MAGI2-related condition | 2019-07-18 | 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, |
RCV000117569 | SCV000151788 | 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. |