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 |
|---|---|---|---|---|---|
| 21 | 42 | 62 | 14 | 4 | 129 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| STAR | 20 | 42 | 57 | 13 | 4 | 122 |
| LOC108863620, STAR | 0 | 0 | 5 | 1 | 0 | 6 |
| CYP21A2, LOC106780800 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 1 | 0 | 51 | 2 | 3 | 57 |
| Counsyl | 3 | 20 | 5 | 0 | 0 | 28 |
| Fulgent Genetics, Fulgent Genetics | 7 | 7 | 5 | 7 | 0 | 26 |
| Natera, Inc. | 9 | 3 | 7 | 5 | 1 | 25 |
| Myriad Genetics, Inc. | 1 | 15 | 0 | 0 | 0 | 16 |
| OMIM | 14 | 0 | 0 | 0 | 0 | 14 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 5 | 4 | 0 | 0 | 0 | 9 |
| Revvity Omics, Revvity | 3 | 2 | 1 | 0 | 0 | 6 |
| Genome-Nilou Lab | 0 | 0 | 2 | 0 | 2 | 4 |
| 3billion | 2 | 0 | 0 | 0 | 0 | 2 |
| MGZ Medical Genetics Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Pars Genome Lab | 0 | 0 | 0 | 0 | 1 | 1 |
| Genomics England Pilot Project, Genomics England | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute Of Endocrinology, Diabetes, Thyroid & Osteoporosis Disorders, Sakra World Hospital, Unit Of Thakshasila Hospital Operating Private Limited | 0 | 0 | 1 | 0 | 0 | 1 |