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 |
117
|
71
|
315
|
189
|
28
|
6
|
689
|
Gene and significance breakdown #
Total genes and gene combinations: 7
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
ACTA1
|
104
|
58
|
145
|
104
|
16
|
0 |
403
|
TPM3
|
13
|
13
|
168
|
85
|
10
|
4
|
280
|
ACTA1, LOC122152321
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
ABCB10, ACTA1, AGT, ARV1, C1orf131, C1orf198, CAPN9, COG2, DISC1, DISC2, EGLN1, EXOC8, FAM89A, GALNT2, GNPAT, NUP133, PGBD5, SPRTN, TAF5L, TRIM67, TSNAX, TTC13, URB2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KBTBD13
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NEB
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
NEB, RIF1
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
93
|
40
|
180
|
174
|
20
|
0 |
507
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
120
|
13
|
11
|
0 |
145
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
0 |
13
|
Baylor Genetics
|
4
|
4
|
5
|
0 |
0 |
0 |
13
|
Harry Perkins Institute Of Medical Research, University Of Western Australia
|
3
|
5
|
2
|
0 |
0 |
0 |
10
|
Mendelics
|
2
|
5
|
0 |
0 |
0 |
0 |
7
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Genetic Services Laboratory, University of Chicago
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
0 |
2
|
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Centogene AG - the Rare Disease Company
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Center for Genetic Medicine Research, Children's National Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Pediatric Department, Peking University First Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
SIB Swiss Institute of Bioinformatics
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
3billion
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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