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 |
---|---|---|---|---|---|
3 | 7 | 110 | 10 | 41 | 171 |
Gene and significance breakdown #
Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|---|
GARS1 | 0 | 0 | 31 | 8 | 39 | 78 |
IGHMBP2 | 2 | 1 | 34 | 0 | 0 | 37 |
PLEKHG5 | 0 | 0 | 7 | 1 | 1 | 9 |
VRK1 | 0 | 5 | 2 | 0 | 0 | 7 |
DYNC1H1 | 0 | 0 | 4 | 1 | 0 | 5 |
PRX | 0 | 0 | 4 | 0 | 0 | 4 |
SETX | 0 | 0 | 4 | 0 | 0 | 4 |
SH3TC2 | 0 | 0 | 4 | 0 | 0 | 4 |
LITAF | 0 | 0 | 3 | 0 | 0 | 3 |
TRPV4 | 0 | 0 | 3 | 0 | 0 | 3 |
SPTAN1 | 1 | 0 | 1 | 0 | 0 | 2 |
AARS1 | 0 | 0 | 1 | 0 | 0 | 1 |
DST | 0 | 0 | 1 | 0 | 0 | 1 |
ETFDH | 0 | 0 | 1 | 0 | 0 | 1 |
FBXO38 | 0 | 0 | 1 | 0 | 0 | 1 |
FUS | 0 | 0 | 1 | 0 | 0 | 1 |
IGHMBP2, LOC130006272, LOC130006273 | 0 | 0 | 1 | 0 | 0 | 1 |
LOC126805598, PLEKHG5 | 0 | 0 | 1 | 0 | 0 | 1 |
MARS1 | 0 | 0 | 1 | 0 | 0 | 1 |
MORC2 | 0 | 0 | 1 | 0 | 0 | 1 |
NEFL | 0 | 0 | 1 | 0 | 0 | 1 |
PLEKHG5, TNFRSF25 | 0 | 0 | 0 | 0 | 1 | 1 |
PMP22 | 0 | 0 | 1 | 0 | 0 | 1 |
SLC5A7 | 0 | 0 | 1 | 0 | 0 | 1 |
SPG7 | 0 | 0 | 1 | 0 | 0 | 1 |
TDRKH | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|---|
Illumina Laboratory Services, Illumina | 0 | 0 | 31 | 9 | 41 | 81 |
Inherited Neuropathy Consortium | 0 | 1 | 45 | 1 | 0 | 47 |
Genesis Genome Database | 0 | 0 | 26 | 0 | 0 | 26 |
Institute of Human Genetics, Cologne University | 0 | 0 | 9 | 0 | 0 | 9 |
Genome Diagnostics Laboratory, University Medical Center Utrecht | 0 | 5 | 0 | 0 | 0 | 5 |
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 2 | 0 | 0 | 0 | 0 | 2 |
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 0 | 1 |
Medical Institute of Bioregulation, Kyushu university | 0 | 1 | 0 | 0 | 0 | 1 |
Molecular Genetics, Royal Melbourne Hospital | 0 | 0 | 1 | 0 | 0 | 1 |