Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002551582 | SCV003294422 | likely benign | Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Precision Medicine Center, |
RCV001391112 | SCV001593014 | likely pathogenic | Renal coloboma syndrome | flagged submission | research | PM1:Located in well-established functional domain PP1:Cosegregation with disease in multiple affected family members PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product PP4:Patient's phenotype is highly specific for a disease PP5:Reputable source recently reports variant as pathogenic | |
Prevention |
RCV004545224 | SCV004769430 | likely benign | PAX2-related disorder | 2020-01-22 | no assertion criteria provided | 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). |