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 |
27
|
13
|
293
|
72
|
38
|
169
|
422
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
MEFV
|
27
|
13
|
293
|
72
|
38
|
169
|
422
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
9
|
2
|
132
|
59
|
20
|
0 |
222
|
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
|
0 |
0 |
0 |
0 |
0 |
150
|
150
|
Illumina Clinical Services Laboratory,Illumina
|
6
|
0 |
91
|
4
|
16
|
0 |
117
|
Mendelics
|
0 |
1
|
97
|
0 |
1
|
0 |
99
|
Natera, Inc.
|
7
|
0 |
46
|
13
|
12
|
0 |
78
|
Integrated Genetics/Laboratory Corporation of America
|
10
|
3
|
2
|
1
|
10
|
0 |
26
|
OMIM
|
15
|
0 |
3
|
0 |
0 |
0 |
18
|
GeneReviews
|
15
|
0 |
1
|
0 |
0 |
0 |
16
|
Medical Biology Lab, Gaziantep University
|
0 |
0 |
0 |
0 |
0 |
13
|
13
|
Counsyl
|
2
|
3
|
3
|
1
|
1
|
0 |
10
|
Myriad Women's Health, Inc.
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Medical Genetics of Dicle University
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Atomic Energy Commission of Syria (AECS)
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Hadassah Hebrew University Medical Center
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
1
|
0 |
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics, School of Medicine,Tehran University of Medical Sciences (TUMS)
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development,BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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