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 |
32
|
10
|
21
|
0 |
8
|
70
|
Gene and significance breakdown #
Total genes and gene combinations: 23
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
JAG1
|
4
|
1
|
5
|
5
|
15
|
GATA4
|
4
|
0 |
3
|
1
|
7
|
NKX2-5
|
4
|
1
|
1
|
0 |
6
|
ZFPM2
|
3
|
0 |
2
|
1
|
6
|
MT-CO1
|
4
|
1
|
0 |
0 |
5
|
TBX1
|
1
|
2
|
2
|
0 |
5
|
GATA6
|
3
|
0 |
1
|
0 |
4
|
LOC126860469, ZFPM2
|
0 |
0 |
3
|
0 |
3
|
MT-CO3
|
3
|
0 |
0 |
0 |
3
|
ROBO1
|
0 |
3
|
0 |
0 |
3
|
ACTN2
|
0 |
0 |
1
|
0 |
1
|
AGPAT5, ANGPT2, ARHGEF10, CLN8, CSMD1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, DLGAP2, ERICH1, FBXO25, KBTBD11, MCPH1, MYOM2, SPAG11A, SPAG11B, TDRP, USP17L1, USP17L4, XKR5, ZNF596, ZNF705B, ZNF705G
|
1
|
0 |
0 |
0 |
1
|
BLK, C8orf74, CLDN23, CTSB, ERI1, FAM167A, FDFT1, GATA4, MFHAS1, MIR124-1, MSRA, MTMR9, NEIL2, PINX1, PPP1R3B, PRSS51, PRSS55, RP1L1, SLC35G5, SOX7, TNKS, XKR6
|
1
|
0 |
0 |
0 |
1
|
BMP7
|
0 |
0 |
0 |
1
|
1
|
CERS1, GDF1
|
1
|
0 |
0 |
0 |
1
|
CRELD1
|
0 |
0 |
1
|
0 |
1
|
EPHB4
|
0 |
1
|
0 |
0 |
1
|
FLNC
|
1
|
0 |
0 |
0 |
1
|
IRX4
|
0 |
0 |
1
|
0 |
1
|
LIMS3, LIMS4, MALL, NPHP1, RGPD5, RGPD6
|
0 |
0 |
1
|
0 |
1
|
MT-CO2
|
1
|
0 |
0 |
0 |
1
|
NOTCH1
|
1
|
0 |
0 |
0 |
1
|
TPM1
|
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
OMIM
|
15
|
0 |
1
|
0 |
16
|
Molecular Biology Laboratory, University of Basrah
|
8
|
1
|
0 |
0 |
9
|
Baylor Genetics
|
3
|
1
|
4
|
0 |
8
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
0 |
6
|
0 |
8
|
Genome-Nilou Lab
|
0 |
0 |
0 |
6
|
6
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
0 |
0 |
4
|
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
3
|
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
0 |
2
|
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine
|
1
|
1
|
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
1
|
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
1
|
Cytogenetics- Mohapatra Lab, Banaras Hindu University
|
0 |
0 |
0 |
1
|
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
1
|
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez
|
0 |
1
|
0 |
0 |
1
|
Phosphorus, Inc.
|
0 |
0 |
1
|
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
1
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
0 |
0 |
1
|
1
|
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia
|
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
1
|
Dept of Reproduction and Endocrinology, The Sixth Affiliated Hospital of Sun Yat-sen University
|
1
|
0 |
0 |
0 |
1
|
Cytogenetics, Genetics Associates, Inc.
|
0 |
0 |
1
|
0 |
1
|
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