Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001262385 | SCV001440232 | uncertain significance | Autosomal recessive Alport syndrome | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001586098 | SCV001813803 | uncertain significance | not provided | 2023-06-12 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001586098 | SCV002393851 | likely benign | not provided | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001830063 | SCV002078903 | uncertain significance | Alport syndrome | 2020-02-10 | no assertion criteria provided | clinical testing |