Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000545056 | SCV000660307 | likely benign | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001785664 | SCV002027970 | uncertain significance | not provided | 2022-12-15 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar (ClinVar Variant ID# 478506; ClinVar) |
Prevention |
RCV003962623 | SCV004776721 | likely benign | DNAH1-related condition | 2022-12-01 | 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). |