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 |
|---|---|---|---|---|---|
| 24 | 5 | 129 | 103 | 15 | 273 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| KLHL41 | 24 | 5 | 129 | 103 | 15 | 273 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 19 | 2 | 123 | 102 | 15 | 261 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Revvity Omics, Revvity | 0 | 2 | 3 | 0 | 0 | 5 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 1 | 0 | 2 |
| Center of Genomic medicine, Geneva, University Hospital of Geneva | 0 | 0 | 2 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Mendelics | 0 | 0 | 0 | 0 | 1 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 1 | 0 | 0 | 1 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 0 | 1 | 0 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 0 | 0 | 1 | 1 |
| Payam Genetics Center, General Welfare Department of North Khorasan Province | 1 | 0 | 0 | 0 | 0 | 1 |