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 |
risk factor |
not provided |
total |
0 |
2
|
48
|
0 |
7
|
4
|
4
|
63
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
likely pathogenic |
uncertain significance |
benign |
risk factor |
not provided |
total |
CACNA1H
|
2
|
48
|
7
|
4
|
4
|
63
|
Submitter and significance breakdown #
Submitter |
likely pathogenic |
uncertain significance |
benign |
risk factor |
not provided |
total |
New York Genome Center
|
0 |
18
|
0 |
0 |
0 |
18
|
Baylor Genetics
|
0 |
17
|
0 |
0 |
0 |
17
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
7
|
0 |
0 |
7
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
5
|
0 |
0 |
5
|
OMIM
|
0 |
0 |
0 |
4
|
0 |
4
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
3
|
0 |
0 |
0 |
4
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
2
|
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
2
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
2
|
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
0 |
0 |
0 |
2
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
2
|
2
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
1
|
0 |
0 |
0 |
1
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
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