Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000710656 | SCV000840905 | likely benign | not provided | 2018-01-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078886 | SCV001113681 | likely benign | ALG9 congenital disorder of glycosylation | 2023-12-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000710656 | SCV002562268 | uncertain significance | not provided | 2023-04-17 | 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 |
RCV003965460 | SCV004785636 | likely benign | ATP6V0A2-related condition | 2023-04-24 | 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). |