Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554508 | SCV000660179 | likely benign | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001330873 | SCV001522717 | uncertain significance | Ciliary dyskinesia, primary, 37 | 2019-09-06 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ce |
RCV003431126 | SCV004148087 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | DNAH1: BP4, BP7 |