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 |
11
|
6
|
342
|
450
|
60
|
1
|
858
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
PIK3CD
|
10
|
5
|
284
|
381
|
54
|
1
|
723
|
LOC126805612, PIK3CD
|
1
|
0 |
56
|
68
|
6
|
0 |
131
|
PIK3R1
|
0 |
1
|
0 |
1
|
0 |
0 |
2
|
ANGPTL7, CASZ1, CENPS, CENPS-CORT, CIROZ, CLSTN1, CORT, CTNNBIP1, DFFA, EXOSC10, KIF1B, LZIC, MASP2, MTOR, NMNAT1, PEX14, PGD, PIK3CD, RBP7, SRM, TARDBP, UBE4B
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CENPS, CENPS-CORT, CLSTN1, CORT, CTNNBIP1, DFFA, KIF1B, LZIC, NMNAT1, PEX14, PGD, PIK3CD, RBP7, UBE4B
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
7
|
4
|
329
|
445
|
58
|
0 |
843
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
4
|
0 |
0 |
0 |
5
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Baylor Genetics
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
2
|
1
|
0 |
4
|
Rarefied Biosciences Lab
|
0 |
1
|
0 |
3
|
0 |
0 |
4
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
Immunology Clinic, Ucla
|
2
|
0 |
0 |
0 |
1
|
0 |
3
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Medicine, University of Cambridge
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Paediatric Laboratory, Institute for Maternal and Child Health - IRCCS Burlo Garofolo
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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