Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000787302 | SCV000998867 | likely pathogenic | Nephrotic syndrome, type 20 | 2019-08-20 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Nephrotic syndrome 20, X-linked. The following ACMG Tag(s) were applied: PM2, PP3, PS3. |
OMIM | RCV000787302 | SCV000926239 | pathogenic | Nephrotic syndrome, type 20 | 2019-07-11 | no assertion criteria provided | literature only |