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 |
other |
not provided |
total |
82
|
22
|
455
|
468
|
63
|
1
|
8
|
1031
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
other |
not provided |
total |
Carney complex, type 1
|
56
|
9
|
371
|
377
|
31
|
0 |
5
|
835
|
Hereditary cancer-predisposing syndrome
|
4
|
4
|
170
|
184
|
12
|
0 |
0 |
368
|
not provided
|
29
|
9
|
30
|
21
|
30
|
0 |
0 |
115
|
Acrodysostosis 1 with or without hormone resistance
|
5
|
2
|
60
|
5
|
17
|
0 |
0 |
89
|
not specified
|
0 |
0 |
21
|
27
|
11
|
0 |
1
|
59
|
Carney complex
|
2
|
0 |
4
|
8
|
7
|
0 |
1
|
22
|
PRKAR1A-related condition
|
2
|
0 |
3
|
14
|
0 |
0 |
0 |
19
|
Acrodysostosis
|
0 |
0 |
3
|
8
|
7
|
0 |
0 |
18
|
Carney complex, type 1; Pigmented nodular adrenocortical disease, primary, 1; Familial atrial myxoma; Acrodysostosis 1 with or without hormone resistance
|
1
|
1
|
9
|
4
|
0 |
0 |
0 |
15
|
Familial atrial myxoma
|
1
|
0 |
0 |
2
|
6
|
0 |
0 |
9
|
Pigmented nodular adrenocortical disease, primary, 1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Adrenocortical tumor, somatic
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Arrhythmogenic right ventricular dysplasia 10
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CARNEY COMPLEX, TYPE I
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Medulloblastoma
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Pigmented nodular adrenocortical disease, primary, 1; Acrodysostosis 1 with or without hormone resistance; Carney complex
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
other |
not provided |
total |
Invitae
|
48
|
8
|
325
|
374
|
18
|
0 |
0 |
773
|
Ambry Genetics
|
4
|
4
|
168
|
184
|
5
|
0 |
0 |
365
|
GeneDx
|
29
|
7
|
19
|
17
|
23
|
0 |
0 |
95
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
50
|
13
|
22
|
0 |
0 |
84
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
24
|
23
|
11
|
0 |
0 |
59
|
PreventionGenetics, part of Exact Sciences
|
2
|
0 |
3
|
14
|
3
|
0 |
0 |
22
|
Sema4, Sema4
|
0 |
0 |
6
|
7
|
8
|
0 |
0 |
21
|
OMIM
|
17
|
0 |
0 |
0 |
0 |
0 |
0 |
17
|
Baylor Genetics
|
1
|
0 |
14
|
0 |
0 |
0 |
0 |
15
|
Fulgent Genetics, Fulgent Genetics
|
1
|
1
|
9
|
4
|
0 |
0 |
0 |
15
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
1
|
0 |
7
|
3
|
0 |
0 |
11
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
2
|
6
|
0 |
0 |
8
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
0 |
5
|
6
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
3
|
1
|
0 |
0 |
4
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
4
|
0 |
0 |
4
|
Mendelics
|
0 |
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
2
|
0 |
1
|
0 |
0 |
3
|
Blueprint Genetics
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
1
|
0 |
0 |
1
|
0 |
0 |
2
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Molecular Diagnostics Lab, Nemours Children's Health, Delaware
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Gene Discovery Core-Manton Center, Boston Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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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.