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 |
73
|
52
|
67
|
42
|
21
|
1
|
232
|
Gene and significance breakdown #
Total genes and gene combinations: 8
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
SOD1
|
59
|
39
|
43
|
33
|
7
|
0 |
163
|
SOD1, SOD1-DT
|
13
|
11
|
17
|
7
|
4
|
1
|
48
|
NEFH
|
0 |
0 |
2
|
2
|
8
|
0 |
11
|
DCTN1
|
0 |
0 |
4
|
0 |
1
|
0 |
5
|
PRPH, TROAP
|
0 |
1
|
0 |
0 |
1
|
0 |
2
|
ATP5PO, CBR1, CBR3, CFAP298, CHAF1B, CLDN14, CLIC6, CRYZL1, DNAJC28, DONSON, DOP1B, DYRK1A, EPCIP, EVA1C, GART, HLCS, HUNK, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITSN1, KCNE1, KCNE2, KCNJ6, MIS18A, MORC3, MRAP, MRPS6, OLIG1, OLIG2, PAXBP1, PIGP, RCAN1, RIPPLY3, RUNX1, SCAF4, SETD4, SIM2, SLC5A3, SMIM11, SOD1, SON, SYNJ1, TCP10L, TIAM1, TMEM50B, TTC3, URB1, VPS26C
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SCAF4, SOD1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UNC13A
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
52
|
31
|
46
|
38
|
6
|
0 |
173
|
OMIM
|
33
|
0 |
0 |
0 |
0 |
0 |
33
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
15
|
2
|
6
|
0 |
23
|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
|
6
|
14
|
0 |
0 |
0 |
0 |
20
|
Mendelics
|
2
|
1
|
3
|
0 |
2
|
0 |
8
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
2
|
6
|
0 |
8
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
7
|
0 |
8
|
MGZ Medical Genetics Center
|
1
|
4
|
2
|
0 |
0 |
0 |
7
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
0 |
0 |
1
|
0 |
3
|
3billion
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, Cologne University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
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contained on this website, please see a health care
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