Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000116650 | SCV000150614 | uncertain significance | not provided | 2014-02-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000116650 | SCV001073558 | likely benign | not provided | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003964978 | SCV004776695 | likely benign | CDT1-related condition | 2023-04-09 | 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). |