Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001449112 | SCV001652217 | likely benign | Transposition of the great arteries, dextro-looped | 2023-06-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001685357 | SCV001903285 | benign | not provided | 2020-04-13 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003938799 | SCV004757493 | likely benign | MED13L-related condition | 2023-08-17 | 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). |