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 |
|---|---|---|---|---|---|
| 33 | 13 | 75 | 198 | 8 | 315 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| GSS | 32 | 13 | 75 | 198 | 8 | 314 |
| ACSS2, ACTL10, AHCY, ASIP, BPIFA1, BPIFA2, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf144, C20orf173, CBFA2T2, CDK5RAP1, CEP250, CHMP4B, CPNE1, DNMT3B, DYNLRB1, E2F1, EDEM2, EFCAB8, EIF2S2, EIF6, ERGIC3, FAM83C, GDF5, GGT7, GSS, ITCH, MAP1LC3A, MAPRE1, MIR499A, MMP24, MYH7B, NCOA6, NECAB3, NFS1, PIGU, PROCR, PXMP4, RALY, RBM12, SNTA1, SPAG4, SUN5, TP53INP2, TRPC4AP, UQCC1, ZNF341 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 30 | 7 | 47 | 196 | 6 | 286 |
| Illumina Laboratory Services, Illumina | 1 | 0 | 29 | 5 | 3 | 38 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 6 | 7 | 0 | 0 | 0 | 13 |
| OMIM | 7 | 0 | 0 | 0 | 0 | 7 |
| Centre for Inherited Metabolic Diseases, Karolinska University Hospital | 1 | 0 | 0 | 0 | 0 | 1 |
| Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 1 | 0 | 0 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 1 |