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 |
---|---|---|---|---|---|---|
15 | 5 | 240 | 281 | 80 | 3 | 602 |
Condition and significance breakdown #
Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
---|---|---|---|---|---|---|---|
Compton-North congenital myopathy | 15 | 4 | 215 | 220 | 28 | 3 | 482 |
not provided | 0 | 1 | 21 | 58 | 56 | 0 | 134 |
not specified | 0 | 0 | 6 | 23 | 15 | 0 | 39 |
Inborn genetic diseases | 0 | 0 | 27 | 0 | 0 | 0 | 27 |
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
---|---|---|---|---|---|---|---|
Invitae | 14 | 4 | 214 | 225 | 27 | 0 | 484 |
GeneDx | 0 | 1 | 18 | 61 | 67 | 0 | 147 |
Ambry Genetics | 0 | 0 | 27 | 0 | 0 | 0 | 27 |
Preventiongenetics, part of Exact Sciences | 0 | 0 | 0 | 7 | 14 | 0 | 21 |
Genetic Services Laboratory, University of Chicago | 0 | 0 | 5 | 6 | 3 | 0 | 14 |
CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 7 | 1 | 0 | 8 |
Athena Diagnostics Inc | 0 | 0 | 1 | 0 | 5 | 0 | 6 |
GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 0 | 0 | 3 | 3 |
Revvity Omics, Revvity Omics | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
Mayo Clinic Laboratories, Mayo Clinic | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 1 | 1 | 0 | 2 |
OMIM | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
Genome Diagnostics Laboratory, University Medical Center Utrecht | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
Mendelics | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
Quest Diagnostics Nichols Institute San Juan Capistrano | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 0 | 1 |