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 |
|---|---|---|---|---|---|
| 0 | 0 | 45 | 29 | 2 | 66 |
Condition and significance breakdown #
Total conditions: 8
| Condition | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 33 | 22 | 0 | 55 |
| not provided | 23 | 4 | 2 | 29 |
| Inborn genetic diseases | 6 | 7 | 0 | 13 |
| not specified | 2 | 3 | 0 | 5 |
| CACNA1A-related disorder | 4 | 0 | 0 | 4 |
| Developmental and epileptic encephalopathy, 42 | 2 | 0 | 0 | 2 |
| Intellectual disability | 0 | 1 | 0 | 1 |
| Neurodevelopmental disorder | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 33 | 22 | 0 | 55 |
| GeneDx | 14 | 5 | 2 | 21 |
| Ambry Genetics | 6 | 7 | 0 | 13 |
| CeGaT Center for Human Genetics Tuebingen | 7 | 1 | 0 | 8 |
| PreventionGenetics, part of Exact Sciences | 3 | 0 | 0 | 3 |
| Baylor Genetics | 2 | 0 | 0 | 2 |
| Revvity Omics, Revvity | 2 | 0 | 0 | 2 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 2 | 0 | 0 | 2 |
| Eurofins Ntd Llc (ga) | 2 | 0 | 0 | 2 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 1 | 1 | 2 |
| Illumina Laboratory Services, Illumina | 1 | 0 | 0 | 1 |
| Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes | 1 | 0 | 0 | 1 |
| Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille | 0 | 1 | 0 | 1 |