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 |
96
|
22
|
451
|
281
|
39
|
2
|
851
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
RPGRIP1
|
95
|
22
|
450
|
281
|
39
|
2
|
849
|
CHD8, HNRNPC, METTL3, RAB2B, RPGRIP1, SALL2, SUPT16H, TOX4
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CHD8, METTL3, RAB2B, RPGRIP1, SALL2, SUPT16H, TOX4
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
90
|
16
|
404
|
268
|
37
|
0 |
815
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
63
|
5
|
14
|
0 |
82
|
Genome-Nilou Lab
|
15
|
3
|
33
|
21
|
3
|
0 |
75
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
3
|
1
|
0 |
0 |
6
|
Baylor Genetics
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
3billion
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DBGen Ocular Genomics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Palindrome, Gene Kavoshgaran Aria
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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