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 |
11
|
8
|
19
|
0 |
0 |
38
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
total |
BICRA
|
11
|
5
|
19
|
35
|
AP2S1, ARHGAP35, BBC3, BICRA, C5AR1, C5AR2, CALM3, CCDC9, DACT3, DHX34, FKRP, GNG8, INAFM1, KPTN, MEIS3, NAPA, NPAS1, PPP5D1, PRKD2, PTGIR, SAE1, SLC1A5, SLC8A2, STRN4, TMEM160, ZC3H4, ZNF541
|
0 |
1
|
0 |
1
|
BICRA, EHD2
|
0 |
1
|
0 |
1
|
BICRA, LOC121627883
|
0 |
1
|
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
total |
OMIM
|
5
|
0 |
0 |
5
|
Revvity Omics, Revvity
|
0 |
0 |
5
|
5
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
1
|
3
|
1
|
5
|
Baylor Genetics
|
1
|
1
|
2
|
4
|
New York Genome Center
|
0 |
0 |
3
|
3
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
2
|
0 |
1
|
3
|
MGZ Medical Genetics Center
|
0 |
0 |
2
|
2
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
2
|
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
1
|
Mendelics
|
1
|
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
1
|
North East Yorkshire Genomic Laboratory Hub
|
0 |
1
|
0 |
1
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
0 |
1
|
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
1
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
1
|
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