Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000147811 | SCV000169670 | benign | not specified | 2014-03-31 | 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. |
Genetic Services Laboratory, |
RCV000147811 | SCV000195284 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002055627 | SCV002402621 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975112 | SCV004792750 | benign | TUBA1A-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). |