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 |
|---|---|---|---|---|---|
| 11 | 4 | 60 | 103 | 11 | 178 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| GDF2 | 10 | 4 | 60 | 103 | 11 | 177 |
| AGAP10, AGAP9, ANXA8, ANXA8L1, ARHGAP22, C10orf53, C10orf71, CHAT, DRGX, ERCC6, FAM170B, FAM25C, FAM25G, FRMPD2, GDF10, GDF2, GPRIN2, LRRC18, MAPK8, MSMB, NCOA4, NPY4R, OGDHL, PARG, PGBD3, PTPN20, RBP3, SLC18A3, SYT15, TIMM23, TMEM273, VSTM4, WDFY4, ZNF488 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Invitae | 7 | 4 | 50 | 97 | 11 | 169 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 3 | 7 | 2 | 12 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 3 | 5 | 1 | 9 |
| NIHR Bioresource Rare Diseases, University of Cambridge | 0 | 0 | 1 | 3 | 0 | 4 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Revvity Omics, Revvity | 0 | 0 | 3 | 0 | 0 | 3 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital | 1 | 0 | 0 | 0 | 0 | 1 |