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 |
|---|---|---|---|---|---|
| 12 | 1 | 57 | 7 | 1 | 78 |
Gene and significance breakdown #
Total genes and gene combinations: 7
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| WNT4 | 3 | 0 | 37 | 7 | 1 | 48 |
| GREB1L | 6 | 1 | 16 | 0 | 0 | 23 |
| GREB1L, LOC101927521 | 0 | 0 | 3 | 0 | 0 | 3 |
| ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, PRKAB2 | 1 | 0 | 0 | 0 | 0 | 1 |
| ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 | 1 | 0 | 0 | 0 | 0 | 1 |
| ESCO1, GREB1L | 1 | 0 | 0 | 0 | 0 | 1 |
| HNRNPCL1 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 35 | 7 | 1 | 43 |
| Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | 4 | 0 | 12 | 0 | 0 | 16 |
| Human Genetic Laboratory, University of Liege | 2 | 1 | 7 | 0 | 0 | 10 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Mayo Clinic Laboratories, Mayo Clinic | 0 | 0 | 1 | 0 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 1 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 1 | 0 | 0 | 0 | 0 | 1 |
| Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital | 1 | 0 | 0 | 0 | 0 | 1 |
| Johns Hopkins Genomics, Johns Hopkins University | 0 | 0 | 1 | 0 | 0 | 1 |
| Medical Genetics Laboratory, CHRU Nancy | 1 | 0 | 0 | 0 | 0 | 1 |