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 |
|
36
|
32
|
53
|
128
|
7
|
11
|
237
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
25
|
5
|
45
|
125
|
6
|
0 |
206
|
|
Natera, Inc.
|
3
|
1
|
10
|
1
|
4
|
0 |
19
|
|
Myriad Genetics, Inc.
|
0 |
13
|
1
|
0 |
0 |
0 |
14
|
|
Counsyl
|
2
|
7
|
4
|
0 |
0 |
0 |
13
|
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
10
|
10
|
|
Revvity Omics, Revvity
|
2
|
2
|
2
|
0 |
0 |
0 |
6
|
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
4
|
1
|
0 |
0 |
6
|
|
Genome-Nilou Lab
|
0 |
1
|
3
|
0 |
1
|
0 |
5
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
|
Baylor Genetics
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Shanghain Institute for Pediatric Research
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Dr.Nikuei Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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