Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Precision Medicine Center, |
RCV001391173 | SCV001593072 | likely pathogenic | Autosomal dominant Alport syndrome | criteria provided, single submitter | research | PM1:Located in a mutational hot spot PM2:not found in gnomAD PM5:Novel missense change at an amino acid residue where a different missense change determined to be pathogenic has been seen before PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product |