Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000714136 | SCV000844814 | likely benign | not provided | 2018-01-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000714136 | SCV001056378 | likely benign | not provided | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003953259 | SCV004775744 | likely benign | TUBA1A-related condition | 2020-02-19 | 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). |