Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000147824 | SCV000169674 | benign | not specified | 2013-10-31 | 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. |
Athena Diagnostics Inc | RCV000714140 | SCV000844818 | benign | not provided | 2018-05-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000714140 | SCV002365958 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965048 | SCV004789134 | benign | TUBA8-related condition | 2019-07-01 | 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, |
RCV000147824 | SCV000195298 | likely benign | not specified | no assertion criteria provided | clinical testing |