Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000853617 | SCV001245372 | likely pathogenic | Spermatogenic failure 39 | 2020-02-14 | criteria provided, single submitter | curation | This variant is interpreted as a likely pathogenic for spermatogenic failure 39, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP2, PM1-supporting, PS3. |
OMIM | RCV000853617 | SCV000996585 | pathogenic | Spermatogenic failure 39 | 2022-07-27 | no assertion criteria provided | literature only |