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 | not provided | total |
|---|---|---|---|---|---|---|
| 10 | 6 | 4 | 0 | 0 | 4 | 23 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| MPZ | 10 | 6 | 4 | 4 | 23 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 2 | 1 | 1 | 0 | 4 |
| OMIM | 4 | 0 | 0 | 0 | 4 |
| GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 3 | 3 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 2 | 1 | 0 | 0 | 3 |
| 3billion | 0 | 1 | 1 | 0 | 2 |
| UCLA Clinical Genomics Center, UCLA | 1 | 1 | 0 | 0 | 2 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 1 | 0 | 1 |
| Dr. med. U. Finckh, Human Genetics, Eurofins MVZ | 0 | 0 | 1 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 1 | 1 |
| Human Genetics Bochum, Ruhr University Bochum | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Goettingen | 1 | 0 | 0 | 0 | 1 |
| Kariminejad - Najmabadi Pathology & Genetics Center | 0 | 1 | 0 | 0 | 1 |
| MVZ Martinsried, Medicover Genetics | 1 | 0 | 0 | 0 | 1 |