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 |
62
|
71
|
97
|
275
|
21
|
1
|
476
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
MPI
|
62
|
71
|
92
|
275
|
20
|
1
|
470
|
FAM219B, MPI
|
0 |
0 |
5
|
0 |
1
|
0 |
6
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
57
|
12
|
36
|
270
|
15
|
0 |
390
|
Baylor Genetics
|
5
|
41
|
4
|
0 |
0 |
0 |
50
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
38
|
3
|
7
|
0 |
49
|
Natera, Inc.
|
1
|
3
|
23
|
10
|
11
|
0 |
48
|
Counsyl
|
0 |
20
|
10
|
1
|
1
|
0 |
32
|
Fulgent Genetics, Fulgent Genetics
|
2
|
2
|
7
|
2
|
0 |
0 |
13
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
3
|
0 |
4
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
Revvity Omics, Revvity
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
3billion
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Biochemistry and Genetic Laboratory, APHP Bichat Claude Bernard Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Pars Genome Lab
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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