Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000761256 | SCV000891213 | likely pathogenic | Autosomal recessive distal renal tubular acidosis | 2018-07-19 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000761256 | SCV000923557 | uncertain significance | Autosomal recessive distal renal tubular acidosis | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Yale Center for Mendelian Genomics, |
RCV001849435 | SCV002106688 | pathogenic | Distal renal tubular acidosis | 2019-10-22 | no assertion criteria provided | literature only |