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 |
|---|---|---|---|---|---|
| 10 | 22 | 145 | 110 | 51 | 300 |
Gene and significance breakdown #
Total genes and gene combinations: 5
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ALDH4A1 | 9 | 19 | 129 | 94 | 46 | 265 |
| ALDH4A1, LOC120893116 | 0 | 0 | 9 | 8 | 3 | 18 |
| ALDH4A1, LOC129929550 | 1 | 3 | 6 | 5 | 1 | 13 |
| ALDH4A1, MIR4695 | 0 | 0 | 0 | 3 | 1 | 3 |
| AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALPL, C1QA, C1QB, C1QC, CAMK2N1, CAPZB, CDA, CDC42, CELA3A, CELA3B, DDOST, ECE1, EIF4G3, EMC1, EPHA8, FAM43B, HP1BP3, HSPG2, HTR6, IFFO2, KIF17, LDLRAD2, MICOS10, MICOS10-NBL1, MRTO4, MUL1, NBL1, NBPF3, OTUD3, PINK1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, RAP1GAP, RNF186, SH2D5, SLC66A1, TMCO4, UBR4, UBXN10, USP48, VWA5B1, WNT4, ZBTB40 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 16
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 4 | 3 | 73 | 97 | 31 | 208 |
| Illumina Laboratory Services, Illumina | 0 | 1 | 74 | 12 | 19 | 106 |
| Fulgent Genetics, Fulgent Genetics | 1 | 14 | 6 | 0 | 0 | 21 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 14 | 14 |
| Baylor Genetics | 0 | 1 | 3 | 0 | 0 | 4 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Revvity Omics, Revvity | 0 | 1 | 2 | 0 | 0 | 3 |
| 3billion | 2 | 0 | 0 | 1 | 0 | 3 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 1 | 0 | 0 | 0 | 2 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 0 | 1 | 1 | 0 | 0 | 2 |
| Elsea Laboratory, Baylor College of Medicine | 0 | 0 | 1 | 0 | 0 | 1 |
| Intergen, Intergen Genetics and Rare Diseases Diagnosis Center | 0 | 1 | 0 | 0 | 0 | 1 |
| Donald Williams Parsons Laboratory, Baylor College of Medicine | 1 | 0 | 0 | 0 | 0 | 1 |
| Daryl Scott Lab, Baylor College of Medicine | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 1 | 0 | 0 | 1 |
| Génétique des Maladies du Développement, Hospices Civils de Lyon | 0 | 1 | 0 | 0 | 0 | 1 |