Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001544578 | SCV001763734 | uncertain significance | not provided | 2021-02-25 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV001279886 | SCV002816495 | uncertain significance | Renal tubular acidosis with progressive nerve deafness | 2022-04-22 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001279886 | SCV001467022 | uncertain significance | Renal tubular acidosis with progressive nerve deafness | 2020-06-22 | no assertion criteria provided | clinical testing |