Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147804 | SCV000195277 | benign | not specified | 2015-08-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000714137 | SCV000722094 | likely benign | not provided | 2018-03-28 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000714137 | SCV000844815 | benign | not provided | 2018-02-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000714137 | SCV001042865 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000714137 | SCV004130845 | benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | TUBA1A: BS1, BS2 |
Prevention |
RCV003927444 | SCV004739844 | likely benign | TUBA1A-related condition | 2020-03-12 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |