Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000887231 | SCV000534874 | benign | not provided | 2020-02-20 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000443702 | SCV000858984 | benign | not specified | 2018-01-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000887231 | SCV001030779 | benign | not provided | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000443702 | SCV002065377 | benign | not specified | 2017-09-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003912778 | SCV004736101 | likely benign | TUBB3-related condition | 2020-02-17 | 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). |