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 |
|---|---|---|---|---|---|---|
| 114 | 36 | 1105 | 655 | 25 | 1 | 1931 |
Gene and significance breakdown #
Total genes and gene combinations: 17
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| CDKN2A | 105 | 36 | 547 | 254 | 14 | 0 | 951 |
| CDK4 | 2 | 0 | 281 | 206 | 4 | 0 | 493 |
| CDK4, TSPAN31 | 0 | 0 | 179 | 136 | 1 | 0 | 316 |
| CDK4, LOC130008148 | 0 | 0 | 66 | 34 | 0 | 0 | 100 |
| CDKN2A, LOC130001603 | 2 | 0 | 18 | 6 | 3 | 0 | 29 |
| CDK4, MIR6759, TSPAN31 | 0 | 0 | 1 | 17 | 1 | 0 | 19 |
| CDKN2A, CDKN2B | 1 | 0 | 4 | 0 | 0 | 0 | 5 |
| CDKN2A, LOC130001603, LOC130001604, LOC130001605 | 1 | 0 | 3 | 0 | 0 | 0 | 4 |
| MITF | 1 | 0 | 0 | 1 | 2 | 0 | 4 |
| MC1R | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| POT1 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| AGAP2, ARHGAP9, ARHGEF25, B4GALNT1, CDK4, CYP27B1, DCTN2, DDIT3, DTX3, EEF1AKMT3, GLI1, INHBC, INHBE, KIF5A, LRP1, MARCHF9, MARS1, MBD6, METTL1, MIR616, NDUFA4L2, NXPH4, OS9, PIP4K2C, R3HDM2, SHMT2, STAC3, TSFM, TSPAN31 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| BAP1, DNAH1 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| CDK4, CYP27B1, MARCHF9 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CDK4, LOC130008148, MIR6759, TSPAN31 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CDKN2A, LOC130001603, LOC130001604 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| TP53 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 110 | 33 | 1102 | 653 | 23 | 0 | 1921 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 11 | 6 | 0 | 0 | 0 | 0 | 17 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 1 | 0 | 3 | 2 | 2 | 0 | 8 |
| St. Jude Molecular Pathology, St. Jude Children's Research Hospital | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Clinical Genetics Laboratory, Skane University Hospital Lund | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Genomics, ADN Uruguay | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 1 | 0 | 0 | 0 | 0 | 0 | 1 |