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 |
|---|---|---|---|---|---|---|
| 8 | 3 | 5 | 0 | 0 | 1 | 17 |
Gene and significance breakdown #
Total genes and gene combinations: 5
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| BCAP31 | 5 | 0 | 5 | 1 | 11 |
| intergenic | 0 | 3 | 0 | 0 | 3 |
| ABCD1, BCAP31, LOC130068830, LOC130068831, LOC130068832, LOC130068833, LOC130068834, PLXNB3, SRPK3 | 1 | 0 | 0 | 0 | 1 |
| ABCD1, BCAP31, PLXNB3 | 1 | 0 | 0 | 0 | 1 |
| BCAP31, SLC6A8 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| OMIM | 3 | 0 | 0 | 0 | 3 |
| Baylor Genetics | 2 | 0 | 1 | 0 | 3 |
| UF de génétique clinique, APHP Hôpital Armand Trousseau | 0 | 3 | 0 | 0 | 3 |
| Revvity Omics, Revvity | 0 | 0 | 2 | 0 | 2 |
| Mendelics | 1 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 1 |
| Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 1 | 1 |
| Laboratory of genome editing, Research Centre for Medical Genetics | 0 | 0 | 1 | 0 | 1 |