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 |
7
|
1
|
84
|
73
|
6
|
166
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
KCNK3
|
7
|
1
|
84
|
73
|
6
|
166
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
0 |
0 |
80
|
70
|
5
|
155
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
14
|
7
|
0 |
21
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
2
|
1
|
4
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
1
|
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University
|
1
|
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
1
|
Rare Disease Genomics Group, St George's University of London
|
1
|
0 |
0 |
0 |
0 |
1
|
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