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 |
|---|---|---|---|---|---|
| 23 | 8 | 96 | 75 | 13 | 210 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| GYG1 | 22 | 5 | 94 | 73 | 13 | 202 |
| GYG1, LOC129937737 | 0 | 3 | 2 | 2 | 0 | 7 |
| AGTR1, ANKUB1, CLRN1, COMMD2, CP, CPA3, CPB1, EIF2A, ERICH6, GPR171, GPR87, GYG1, HLTF, HPS3, IGSF10, MED12L, MINDY4B, P2RY12, P2RY13, P2RY14, PFN2, RNF13, SELENOT, SERP1, SIAH2, TM4SF1, TM4SF18, TM4SF4, TSC22D2, WWTR1 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 20 | 6 | 94 | 73 | 13 | 206 |
| Fulgent Genetics, Fulgent Genetics | 1 | 1 | 2 | 2 | 1 | 7 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 2 | 0 | 0 | 0 | 3 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 1 | 1 | 0 | 0 | 0 | 2 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 0 | 1 | 0 | 0 | 2 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 1 | 1 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| MGZ Medical Genetics Center | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |