Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002210982 | SCV002496285 | uncertain significance | not provided | 2022-03-28 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Occurs in the triple helical domain within an interruption of the canonical Gly-X-Y repeat |
Fulgent Genetics, |
RCV002496146 | SCV002799627 | uncertain significance | Autosomal recessive Alport syndrome; Benign familial hematuria | 2022-02-16 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002210982 | SCV003479300 | likely benign | not provided | 2023-06-09 | criteria provided, single submitter | clinical testing |