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 |
association |
total |
|
4
|
11
|
10
|
0 |
0 |
16
|
41
|
Gene and significance breakdown #
Total genes and gene combinations: 14
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
association |
total |
|
TAF1
|
0 |
0 |
0 |
16
|
16
|
|
NOTCH1
|
0 |
4
|
1
|
0 |
5
|
|
ROBO1
|
0 |
1
|
3
|
0 |
4
|
|
CEP170B
|
0 |
0 |
2
|
0 |
2
|
|
MYH6
|
1
|
1
|
0 |
0 |
2
|
|
NKX2-5
|
0 |
2
|
0 |
0 |
2
|
|
NODAL
|
1
|
0 |
1
|
0 |
2
|
|
TBX5
|
1
|
1
|
0 |
0 |
2
|
|
ATP5ME, CPLX1, CRIPAK, CTBP1, DGKQ, FAM53A, FGFR3, FGFRL1, GAK, IDUA, LETM1, MAEA, MYL5, NKX1-1, PCGF3, PDE6B, PIGG, RNF212, SLBP, SLC26A1, SLC49A3, SPON2, TACC3, TMEM129, TMEM175, UVSSA, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732
|
1
|
0 |
0 |
0 |
1
|
|
CERS1, GDF1
|
0 |
1
|
0 |
0 |
1
|
|
DDB1
|
0 |
0 |
1
|
0 |
1
|
|
ISL1
|
0 |
0 |
1
|
0 |
1
|
|
NONO
|
0 |
1
|
0 |
0 |
1
|
|
PRDM6
|
0 |
0 |
1
|
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
association |
total |
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
0 |
0 |
16
|
16
|
|
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven
|
1
|
5
|
0 |
0 |
6
|
|
Center for Reproductive Medicine, Peking University Third Hospital
|
1
|
1
|
3
|
0 |
5
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
3
|
0 |
4
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
2
|
0 |
0 |
2
|
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
1
|
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
0 |
0 |
1
|
0 |
1
|
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
1
|
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
1
|
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
1
|
0 |
0 |
0 |
1
|
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
0 |
1
|
0 |
1
|
|
Reproductive Health Research and Development, BGI Genomics
|
0 |
1
|
0 |
0 |
1
|
|
New York Genome Center
|
0 |
0 |
1
|
0 |
1
|
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