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 |
total |
92
|
119
|
267
|
430
|
56
|
881
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
HLCS
|
91
|
119
|
265
|
430
|
50
|
872
|
HLCS, LOC130066639
|
0 |
0 |
1
|
0 |
6
|
7
|
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, HLCS, MORC3, SETD4, SIM2
|
0 |
0 |
1
|
0 |
0 |
1
|
CHAF1B, CLDN14, HLCS, MORC3, SIM2
|
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
86
|
16
|
134
|
414
|
35
|
685
|
Illumina Laboratory Services, Illumina
|
2
|
0 |
107
|
12
|
24
|
145
|
Natera, Inc.
|
7
|
3
|
37
|
13
|
14
|
74
|
Baylor Genetics
|
18
|
50
|
1
|
0 |
0 |
69
|
Myriad Genetics, Inc.
|
0 |
39
|
1
|
0 |
0 |
40
|
Counsyl
|
3
|
18
|
13
|
0 |
0 |
34
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
10
|
4
|
0 |
0 |
0 |
14
|
Revvity Omics, Revvity
|
2
|
3
|
6
|
0 |
0 |
11
|
Genome-Nilou Lab
|
0 |
0 |
3
|
1
|
7
|
11
|
Fulgent Genetics, Fulgent Genetics
|
3
|
1
|
5
|
1
|
0 |
10
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
9
|
Mendelics
|
2
|
1
|
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
1
|
0 |
0 |
0 |
2
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
2
|
0 |
0 |
0 |
0 |
2
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
0 |
1
|
0 |
0 |
2
|
SingHealth Duke-NUS Institute of Precision Medicine
|
1
|
0 |
1
|
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
1
|
0 |
0 |
0 |
2
|
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital
|
1
|
1
|
0 |
0 |
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
1
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
0 |
0 |
0 |
0 |
1
|
Pars Genome Lab
|
0 |
0 |
0 |
1
|
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
1
|
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