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 |
|---|---|---|---|---|---|
| 69 | 32 | 794 | 739 | 66 | 1660 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ABCC9 | 57 | 26 | 610 | 562 | 55 | 1276 |
| ABCC9, KCNJ8 | 12 | 6 | 182 | 177 | 11 | 382 |
| ABCC9, GOLT1B, GYS2, KCNJ8, LDHB, PYROXD1, RECQL, SPX | 0 | 0 | 2 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 67 | 30 | 750 | 731 | 66 | 1644 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 46 | 8 | 5 | 59 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 4 | 0 | 0 | 4 |
| Mendelics | 0 | 0 | 1 | 0 | 2 | 3 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 2 | 0 | 0 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 2 | 0 | 0 | 2 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 1 | 0 | 0 | 0 | 1 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 0 | 0 | 1 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Mayo Clinic Laboratories, Mayo Clinic | 0 | 0 | 1 | 0 | 0 | 1 |
| Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria | 0 | 0 | 1 | 0 | 0 | 1 |
| Solve-RD Consortium | 0 | 1 | 0 | 0 | 0 | 1 |