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 |
502
|
122
|
753
|
469
|
60
|
3
|
1822
|
Gene and significance breakdown #
Total genes and gene combinations: 14
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
PTEN
|
487
|
122
|
730
|
456
|
53
|
3
|
1770
|
KLLN, PTEN
|
8
|
0 |
11
|
3
|
2
|
0 |
22
|
LOC130004273, PTEN
|
0 |
0 |
9
|
4
|
1
|
0 |
11
|
KLLN, LOC130004273, PTEN
|
0 |
0 |
1
|
5
|
4
|
0 |
9
|
KLLN, LOC130004273, LOC130004274, PTEN
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
ACTA2, ANKRD22, KLLN, LIPF, LIPJ, LIPK, LIPM, LIPN, PTEN, RNLS, STAMBPL1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ADIRF, AGAP11, ATAD1, BMPR1A, FAM245A, FAM25A, GLUD1, KLLN, LINC00863, LOC111982877, LOC111982878, LOC116216117, LOC121366070, LOC121366071, LOC124416862, LOC124416863, LOC126860989, LOC126860990, LOC126860991, LOC129390212, LOC129390213, LOC130004248, LOC130004249, LOC130004250, LOC130004251, LOC130004252, LOC130004253, LOC130004254, LOC130004255, LOC130004256, LOC130004257, LOC130004258, LOC130004259, LOC130004260, LOC130004261, LOC130004262, LOC130004263, LOC130004264, LOC130004265, LOC130004266, LOC130004267, LOC130004268, LOC130004269, LOC130004270, LOC130004271, LOC130004272, LOC130004273, LOC130004274, MINPP1, MIR4678, MMRN2, NUTM2A, NUTM2D, PAPSS2, PTEN, SHLD2, SNCG
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ADIRF, AGAP11, ATAD1, BMPR1A, FAM25A, GLUD1, KLLN, LDB3, MINPP1, MMRN2, NUTM2A, PAPSS2, PTEN, SHLD2, SNCG
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ADIRF, AGAP11, ATAD1, BMPR1A, FAM25A, GLUD1, KLLN, MINPP1, MMRN2, NUTM2A, PAPSS2, PTEN, SHLD2, SNCG
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ATAD1, KLLN, LIPF, LIPJ, LIPK, LIPN, MINPP1, PAPSS2, PTEN, RNLS
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ATAD1, KLLN, LIPF, LIPJ, LIPK, LIPN, PTEN, RNLS
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KLLN, LOC130004270
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC130004274, PTEN
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
LOC130004275, PTEN
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
455
|
74
|
614
|
425
|
29
|
0 |
1597
|
Clingen PTEN Variant Curation Expert Panel, Clingen
|
55
|
43
|
54
|
30
|
10
|
0 |
192
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
97
|
11
|
23
|
0 |
132
|
Mendelics
|
3
|
6
|
16
|
12
|
9
|
0 |
46
|
Herman Laboratory, Nationwide Children's Hospital
|
33
|
0 |
0 |
0 |
0 |
0 |
33
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
5
|
4
|
0 |
0 |
0 |
0 |
9
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Medical Molecular Genetics, University of Birmingham
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Yale Center for Mendelian Genomics, Yale University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
University Health Network, Princess Margaret Cancer Centre
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
King Laboratory, University of Washington
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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