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 |
|
101
|
37
|
1018
|
722
|
136
|
19
|
1949
|
Gene and significance breakdown #
Total genes and gene combinations: 6
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
GH-LCR, SCN4A
|
66
|
27
|
669
|
448
|
81
|
12
|
1249
|
|
SCN4A
|
34
|
10
|
346
|
274
|
55
|
7
|
696
|
|
CD79B, SCN4A
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
CEP95, DDX5, ERN1, ICAM2, LRRC37A3, MILR1, PECAM1, POLG2, PRR29, SCN4A, SMURF2, TEX2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
CLCN1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
CLCN1, LOC123956257
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
97
|
26
|
951
|
702
|
80
|
0 |
1856
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
71
|
29
|
98
|
0 |
198
|
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
19
|
20
|
|
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences
|
5
|
2
|
5
|
0 |
0 |
0 |
12
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
5
|
6
|
0 |
0 |
0 |
12
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
3
|
2
|
2
|
0 |
0 |
0 |
7
|
|
MGZ Medical Genetics Center
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
|
3billion
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
|
Baylor Genetics
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Institute of Immunology and Genetics Kaiserslautern
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Clinical Genomics Laboratory, Stanford Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics Munich, TUM University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Variantyx, Inc.
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. The submitted information has not been verified.
If you have questions about the information contained on this
website, please see a health care professional.