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 |
10
|
11
|
10
|
0 |
4
|
33
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
SMPD4
|
9
|
11
|
10
|
4
|
32
|
CCDC115, CCDC74B, IMP4, LOC129934761, LOC129934763, LOC129934764, LOC129934765, LOC129934766, LOC129934767, LOC129934768, LOC129934769, LOC129934770, LOC129934771, LOC129934772, MZT2B, POTEF, PTPN18, SMPD4, TRE-TTC1-1, TUBA3E
|
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
OMIM
|
6
|
0 |
0 |
0 |
6
|
SIB Swiss Institute of Bioinformatics
|
0 |
3
|
3
|
0 |
6
|
Baylor Genetics
|
1
|
2
|
2
|
0 |
5
|
Revvity Omics, Revvity
|
1
|
2
|
1
|
0 |
4
|
Genome-Nilou Lab
|
0 |
0 |
0 |
4
|
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
2
|
0 |
3
|
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
|
0 |
2
|
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
0 |
2
|
0 |
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
1
|
0 |
2
|
Mendelics
|
1
|
0 |
0 |
0 |
1
|
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain)
|
0 |
1
|
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
0 |
0 |
0 |
1
|
Akhavan-Niaki Genetics Laboratory, Babol University of Medical Sciences
|
1
|
0 |
0 |
0 |
1
|
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province
|
1
|
0 |
0 |
0 |
1
|
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