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 |
|---|---|---|---|---|---|
| 2 | 0 | 80 | 62 | 4 | 146 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| SCN2B | 2 | 79 | 62 | 4 | 145 |
| ABCG4, ARCN1, ATP5MG, BCL9L, C2CD2L, CBL, CD3D, CD3E, CD3G, CENATAC, CXCR5, DDX6, DPAGT1, DRC12, FOXR1, H2AX, HINFP, HMBS, HYOU1, IFT46, JAML, KMT2A, MPZL2, MPZL3, NHERF4, NLRX1, PHLDB1, RPS25, SCN2B, SCN4B, SLC37A4, TMEM25, TRAPPC4, TREH, TTC36, UBE4A, UPK2, VPS11 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 74 | 62 | 4 | 140 |
| Fulgent Genetics, Fulgent Genetics | 0 | 13 | 0 | 0 | 13 |
| Revvity Omics, Revvity | 0 | 3 | 0 | 0 | 3 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 3 | 0 | 0 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 1 | 0 | 0 | 1 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 0 | 1 | 1 |
| Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center | 0 | 1 | 0 | 0 | 1 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 1 | 0 | 0 | 1 |
| Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare | 1 | 0 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 1 | 1 |