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 |
|---|---|---|---|---|---|
| 5 | 1 | 23 | 0 | 0 | 27 |
Condition and significance breakdown #
Total conditions: 7
| Condition | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| not specified | 0 | 0 | 10 | 10 |
| Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome | 5 | 0 | 4 | 9 |
| not provided | 0 | 0 | 6 | 6 |
| Neuromuscular disease | 0 | 0 | 2 | 2 |
| Myopathy with tubular aggregates | 0 | 1 | 0 | 1 |
| Sensorineural hearing loss disorder; Myopathy | 0 | 0 | 1 | 1 |
| Sensorineural hearing loss disorder; Myopathy; Premature ovarian insufficiency | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Ambry Genetics | 0 | 0 | 10 | 10 |
| OMIM | 5 | 0 | 0 | 5 |
| GeneDx | 0 | 0 | 4 | 4 |
| Baylor Genetics | 0 | 0 | 2 | 2 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 2 | 2 |
| Undiagnosed Diseases Network, NIH | 0 | 0 | 2 | 2 |
| Reproductive Development, Murdoch Childrens Research Institute | 0 | 0 | 2 | 2 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 2 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 2 | 2 |
| Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire | 0 | 1 | 0 | 1 |