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 | uncertain risk allele | total |
|---|---|---|---|---|---|---|
| 20 | 7 | 34 | 5 | 0 | 2 | 65 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | uncertain risk allele | total |
|---|---|---|---|---|---|---|
| AVP | 20 | 7 | 34 | 5 | 2 | 65 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | uncertain risk allele | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 3 | 2 | 31 | 5 | 0 | 41 |
| OMIM | 18 | 0 | 0 | 0 | 0 | 18 |
| Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic | 0 | 0 | 1 | 0 | 2 | 3 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 1 | 0 | 0 | 0 | 2 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 1 | 0 | 0 | 0 | 1 |
| Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare | 0 | 1 | 0 | 0 | 0 | 1 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 0 | 1 | 0 | 0 | 0 | 1 |
| MVZ Medizinische Genetik Mainz | 0 | 1 | 0 | 0 | 0 | 1 |
| Genetics Department, Catlab | 0 | 0 | 1 | 0 | 0 | 1 |