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 |
association |
established risk allele |
likely risk allele |
risk factor |
not provided |
total |
157
|
55
|
1237
|
747
|
115
|
3
|
1
|
1
|
2
|
24
|
2181
|
Gene and significance breakdown #
Total genes and gene combinations: 18
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
established risk allele |
likely risk allele |
risk factor |
not provided |
total |
PRSS1, TRB
|
17
|
15
|
395
|
210
|
39
|
0 |
0 |
0 |
0 |
4
|
629
|
CPA1
|
0 |
1
|
351
|
237
|
7
|
0 |
0 |
0 |
0 |
0 |
594
|
CTRC
|
18
|
15
|
294
|
209
|
33
|
2
|
0 |
0 |
0 |
3
|
515
|
CFTR
|
75
|
15
|
96
|
21
|
15
|
0 |
0 |
0 |
0 |
6
|
216
|
SPINK1
|
17
|
8
|
83
|
63
|
16
|
1
|
1
|
1
|
2
|
8
|
167
|
CFTR, LOC111674472
|
9
|
1
|
10
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
20
|
CFTR, LOC111674475
|
11
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
13
|
CFTR, LOC111674477
|
3
|
0 |
1
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
9
|
CFTR, LOC111674463
|
0 |
0 |
1
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
5
|
CFTR, LOC113633877
|
1
|
0 |
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
4
|
PRSS1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
AGMAT, CASP9, CELA2A, CELA2B, CTRC, DDI2, DNAJC16, PLEKHM2, RSC1A1, SLC25A34
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CFTR, LOC111674468, LOC111674477
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CFTR, LOC113664106
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CFTR, LOC113664106, LOC113664107
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
CLEC5A, MGAM, MTRNR2L6, OR9A4, PRSS1, PRSS37, PRSS58, SSBP1, TAS2R3, TAS2R38, TAS2R4, TAS2R5, TRB
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
EPHB6, TRPV6
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SAR1B
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
established risk allele |
likely risk allele |
risk factor |
not provided |
total |
Ambry Genetics
|
26
|
13
|
922
|
564
|
32
|
0 |
0 |
0 |
0 |
0 |
1557
|
Invitae
|
17
|
11
|
339
|
204
|
60
|
2
|
0 |
0 |
1
|
0 |
634
|
Fulgent Genetics, Fulgent Genetics
|
74
|
6
|
86
|
4
|
4
|
0 |
0 |
0 |
0 |
0 |
174
|
Sema4, Sema4
|
10
|
7
|
34
|
50
|
27
|
0 |
0 |
0 |
0 |
0 |
128
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
8
|
7
|
24
|
30
|
23
|
0 |
0 |
0 |
0 |
0 |
92
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
30
|
15
|
15
|
0 |
0 |
0 |
0 |
0 |
61
|
Mendelics
|
28
|
5
|
3
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
40
|
GeneReviews
|
3
|
0 |
0 |
0 |
1
|
1
|
0 |
0 |
0 |
21
|
26
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
1
|
4
|
14
|
0 |
0 |
1
|
0 |
0 |
20
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
7
|
7
|
1
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
19
|
OMIM
|
16
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
17
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
4
|
1
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
7
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
MGZ Medical Genetics Center
|
3
|
0 |
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
9
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
6
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Baylor Genetics
|
2
|
3
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Forschungslabor Klinik Innere Medizin A University Medicine Greifswald
|
1
|
1
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
3
|
1
|
0 |
0 |
1
|
0 |
0 |
0 |
5
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Centogene AG - the Rare Disease Company
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Eurofins-Biomnis
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
2
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
3billion
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Revvity Omics, Revvity
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenePathDx, GenePath diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Lab, CHRU Brest
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Sydney Genome Diagnostics, Children's Hospital Westmead
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
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. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.