Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000945491 | SCV001091512 | likely benign | Saldino-Mainzer syndrome | 2024-01-01 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001074634 | SCV001240226 | uncertain significance | Retinal dystrophy | 2019-02-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001772171 | SCV001992877 | uncertain significance | not provided | 2019-07-03 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003913196 | SCV004731154 | likely benign | IFT140-related condition | 2022-07-06 | 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). |