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 |
195
|
76
|
1068
|
1739
|
650
|
9
|
3665
|
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 |
COL5A1
|
136
|
49
|
505
|
894
|
403
|
6
|
1940
|
COL5A2
|
14
|
14
|
443
|
632
|
131
|
3
|
1233
|
COL5A1, LOC101448202
|
42
|
12
|
118
|
213
|
116
|
0 |
486
|
COL3A1, COL5A2
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
AEBP1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
C9orf163, CAMSAP1, CARD9, COL5A1, DNLZ, ENTR1, FCN1, FCN2, GLT6D1, GPSM1, INPP5E, KCNT1, LCN1, LCN9, LHX3, LINC02907, MRPS2, NACC2, NOTCH1, OBP2A, OLFM1, PAEP, PIERCE1, PMPCA, PPP1R26, QSOX2, SEC16A, SNAPC4, SOHLH1, TMEM250, UBAC1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
COL1A1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
COL5A1, LOC130002964
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
179
|
57
|
1021
|
1738
|
568
|
0 |
3563
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
184
|
0 |
184
|
MGZ Medical Genetics Center
|
0 |
3
|
10
|
1
|
0 |
0 |
14
|
OMIM
|
12
|
0 |
0 |
0 |
0 |
0 |
12
|
Baylor Genetics
|
1
|
2
|
6
|
0 |
0 |
0 |
9
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
6
|
0 |
0 |
0 |
7
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
7
|
7
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
5
|
0 |
0 |
0 |
6
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
1
|
4
|
0 |
0 |
0 |
5
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
MVZ Medizinische Genetik Mainz
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Mendelics
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Human Genetics Bochum, Ruhr University Bochum
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
MVZ Dr. Eberhard & Partner Dortmund
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, Region Ostergotland
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Division of Biology and Genetics, University of Brescia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ConGen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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