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.
Gene and significance breakdown #
Total genes and gene combinations: 28
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
TTN
|
181
|
1872
|
6238
|
10252
|
919
|
18
|
18580
|
LOC101927055, TTN
|
1
|
4
|
77
|
148
|
17
|
0 |
239
|
LOC126806422, TTN
|
1
|
38
|
46
|
120
|
9
|
0 |
201
|
LOC126806423, TTN
|
3
|
30
|
46
|
105
|
9
|
0 |
183
|
LOC126806425, TTN
|
1
|
35
|
47
|
95
|
11
|
0 |
177
|
LOC126806424, TTN
|
2
|
29
|
46
|
90
|
8
|
0 |
166
|
LOC126806430, TTN
|
0 |
1
|
46
|
112
|
16
|
0 |
162
|
LOC126806421, TTN
|
1
|
25
|
41
|
86
|
7
|
0 |
156
|
LOC126806431, TTN
|
0 |
1
|
50
|
101
|
9
|
0 |
153
|
LOC126806426, TTN
|
0 |
21
|
34
|
81
|
3
|
0 |
136
|
LOC129935183, TTN
|
2
|
11
|
83
|
29
|
6
|
0 |
127
|
LOC126806420, TTN
|
0 |
27
|
28
|
68
|
9
|
0 |
126
|
LOC126806427, TTN
|
2
|
3
|
46
|
74
|
11
|
0 |
126
|
LOC126806433, TTN
|
0 |
3
|
46
|
75
|
3
|
0 |
124
|
LOC126806428, TTN
|
0 |
1
|
35
|
85
|
6
|
0 |
120
|
LOC126806429, TTN
|
0 |
0 |
30
|
55
|
8
|
0 |
85
|
LOC129935182, TTN
|
2
|
7
|
44
|
13
|
0 |
0 |
64
|
LOC129935184, TTN
|
1
|
0 |
20
|
10
|
1
|
0 |
29
|
LOC129935185, TTN
|
0 |
1
|
13
|
4
|
1
|
0 |
19
|
LOC126806432, TTN
|
0 |
0 |
10
|
1
|
1
|
0 |
12
|
LOC129935186, TTN
|
0 |
2
|
3
|
6
|
0 |
0 |
11
|
CCDC141, FKBP7, PJVK, PLEKHA3, PRKRA, TTN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FKBP7, PJVK, PLEKHA3, PRKRA, TTN
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC101927055, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, TTN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126806420, LOC126806421, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, TTN
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC126806425, LOC126806426, LOC126806427, TTN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126806428, LOC126806429, LOC126806430, LOC126806431, TTN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC129388955, TTN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
170
|
2061
|
5350
|
11393
|
947
|
0 |
19921
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
1417
|
180
|
176
|
0 |
1773
|
Fulgent Genetics, Fulgent Genetics
|
15
|
55
|
1057
|
140
|
18
|
0 |
1285
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
635
|
0 |
635
|
Baylor Genetics
|
6
|
6
|
37
|
0 |
0 |
0 |
49
|
Broad Institute Rare Disease Group, Broad Institute
|
9
|
5
|
6
|
0 |
0 |
0 |
20
|
Phosphorus, Inc.
|
0 |
0 |
10
|
0 |
2
|
0 |
12
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
6
|
0 |
0 |
0 |
0 |
8
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
7
|
0 |
0 |
0 |
8
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
8
|
8
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
8
|
8
|
Center of Excellence for Medical Genomics, Chulalongkorn University
|
2
|
0 |
4
|
0 |
0 |
0 |
6
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
3billion
|
3
|
0 |
1
|
0 |
0 |
0 |
4
|
Undiagnosed Diseases Network, NIH
|
1
|
1
|
0 |
1
|
0 |
0 |
3
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Suma Genomics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, Cologne University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genetics and Personalized Medicine Clinic, Tartu University Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Arcensus
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genetic Medicine Research, Children's National Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Functional Genomics, Research Centre for Medical Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Heidelberg University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CUBI - Core Unit Bioinformatics, Berlin Institute of Health
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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