Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001442812 | SCV001645767 | likely benign | not provided | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003946156 | SCV004763785 | likely benign | TUBGCP6-related condition | 2019-03-20 | 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). |