Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000530482 | SCV000660263 | benign | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2024-01-23 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003114677 | SCV003800564 | likely benign | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905483 | SCV004721864 | benign | DNAH1-related condition | 2021-02-01 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |