Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725127 | SCV000334303 | uncertain significance | not provided | 2015-08-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725127 | SCV000524851 | likely benign | not provided | 2020-01-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000725127 | SCV001048285 | benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000725127 | SCV004143635 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | TUBB3: BP4, BP7 |
Prevention |
RCV003967718 | SCV004779183 | likely benign | TUBB3-related condition | 2020-03-04 | 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). |