ClinVar Miner

Variants studied for Seckel syndrome

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
45 36 447 188 127 8 824

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATR 6 6 237 146 45 3 429
CEP152 8 5 72 11 25 2 120
CENPJ 9 4 50 10 18 0 85
CENPJ, RNF17 3 2 35 3 11 0 54
NIN 2 2 7 2 11 3 27
CENPE 2 4 8 0 4 0 17
CEP63 3 5 6 0 2 0 15
RBBP8 3 2 7 1 3 0 15
PLK4 2 3 5 2 2 0 14
DNA2 1 0 3 5 3 0 12
ATR, LOC126806830 0 0 8 3 0 0 11
TRAIP 2 1 4 2 2 0 11
NSMCE2 2 1 2 0 0 0 5
ATR, LOC129937703 0 0 2 1 0 0 3
LOC130055602, NIN 0 1 0 1 1 0 3
LOC126861936, NIN 1 0 1 1 0 0 2
ATRIP, ATRIP-TREX1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 0 1 168 142 68 0 379
Illumina Laboratory Services, Illumina 0 0 242 29 79 0 350
Fulgent Genetics, Fulgent Genetics 3 4 30 20 2 0 59
Genetic Services Laboratory, University of Chicago 11 3 13 0 0 0 27
OMIM 24 0 0 0 0 0 24
Baylor Genetics 1 2 20 0 0 0 23
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 5 5 0 0 0 11
Mendelics 0 0 2 0 6 0 8
Revvity Omics, Revvity 0 0 6 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 5 0 0 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 3 1 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 1 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 0 0 0 0 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 2 0 0 0 0 2
Stewart Lab, University of Birmingham 0 2 0 0 0 0 2
New York Genome Center 0 1 1 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 2
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
3billion 0 0 1 0 0 0 1
DASA 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 0 1 0 0 0 1

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