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 |
|---|---|---|---|---|---|---|
| 65 | 93 | 80 | 27 | 29 | 12 | 285 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| ALPL | 63 | 92 | 80 | 27 | 29 | 12 | 282 |
| ACAD9 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| OCA2 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| SLC2A1 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| JKU Lab, Dept of Paediatrics, Johannes Kepler University | 10 | 58 | 25 | 3 | 1 | 0 | 97 |
| Natera, Inc. | 26 | 4 | 32 | 13 | 12 | 0 | 87 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 46 | 27 | 0 | 0 | 0 | 0 | 73 |
| Illumina Laboratory Services, Illumina | 5 | 1 | 25 | 15 | 25 | 0 | 71 |
| GeneReviews | 0 | 0 | 0 | 0 | 0 | 8 | 8 |
| Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota | 2 | 5 | 0 | 0 | 0 | 0 | 7 |
| Genetics and Molecular Pathology, SA Pathology | 3 | 1 | 0 | 0 | 0 | 0 | 4 |
| GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 0 | 0 | 3 | 3 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 1 | 1 | 0 | 0 | 0 | 0 | 2 |
| DASA | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| MVZ Dr. Eberhard & Partner Dortmund | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Reproductive Health Research and Development, BGI Genomics | 1 | 0 | 0 | 0 | 0 | 0 | 1 |