If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.
| pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| 21 | 26 | 123 | 23 | 35 | 227 |
Gene and significance breakdown #
Total genes and gene combinations: 5
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| CLCNKB, LOC106501713 | 17 | 22 | 100 | 21 | 24 | 183 |
| CLCNKA, LOC106501712 | 2 | 3 | 9 | 1 | 10 | 25 |
| CLCNKB | 2 | 1 | 11 | 1 | 1 | 16 |
| CLCNKA | 0 | 0 | 2 | 0 | 0 | 2 |
| COL12A1 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 18 | 22 | 110 | 23 | 2 | 175 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 33 | 33 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 3 | 0 | 0 | 3 |
| Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic | 0 | 1 | 2 | 0 | 0 | 3 |
| Baylor Genetics | 0 | 1 | 1 | 0 | 0 | 2 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 1 | 1 | 0 | 0 | 2 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 1 | 1 | 0 | 0 | 0 | 2 |
| Mendelics | 0 | 0 | 1 | 0 | 1 | 2 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 2 |
| Revvity Omics, Revvity | 0 | 0 | 2 | 0 | 0 | 2 |
| Wonkam Laboratory, Johns Hopkins University | 0 | 1 | 1 | 0 | 0 | 2 |
| Hadassah Hebrew University Medical Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Johns Hopkins Genomics, Johns Hopkins University | 0 | 0 | 1 | 0 | 0 | 1 |
| Sydney Genome Diagnostics, Children's Hospital Westmead | 0 | 0 | 1 | 0 | 0 | 1 |