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 |
|---|---|---|---|---|---|
| 20 | 10 | 31 | 11 | 1 | 70 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ATP6V0A4 | 19 | 10 | 31 | 11 | 1 | 69 |
| ATP6V0A4, LOC129389889 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 4 | 4 | 17 | 11 | 1 | 37 |
| OMIM | 11 | 0 | 0 | 0 | 0 | 11 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 2 | 8 | 0 | 0 | 10 |
| Revvity Omics, Revvity | 2 | 1 | 3 | 0 | 0 | 6 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 1 | 1 | 0 | 0 | 3 |
| Pediatrics Genetics, Post Graduate Institute of Medical Education and Research | 0 | 2 | 1 | 0 | 0 | 3 |
| Baylor Genetics | 1 | 1 | 0 | 0 | 0 | 2 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 1 | 0 | 0 | 1 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 1 | 0 | 0 | 0 | 0 | 1 |
| 3billion | 1 | 0 | 0 | 0 | 0 | 1 |
| Suma Genomics | 1 | 0 | 0 | 0 | 0 | 1 |
| MVZ Medizinische Genetik Mainz | 1 | 0 | 0 | 0 | 0 | 1 |