Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000553054 | SCV000660199 | likely benign | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003437291 | SCV004148093 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | DNAH1: BP4, BP7 |
Prevention |
RCV003915659 | SCV004731497 | likely benign | DNAH1-related condition | 2020-02-28 | 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). |