ClinVar Miner

Variants studied for Seckel syndrome

Included ClinVar conditions (15):
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
42 18 284 30 85 1 450

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATR 6 4 111 8 28 0 155
CEP152 6 3 68 11 25 1 111
CENPJ 9 2 48 7 17 0 82
CENPJ, RNF17 2 2 35 3 10 0 52
NIN 3 2 6 1 3 0 14
CEP63 3 2 4 0 1 0 8
CENPE 2 2 4 0 0 0 7
PLK4 2 1 2 0 0 0 5
TRAIP 2 0 2 0 1 0 5
RBBP8 3 0 1 0 0 0 4
DNA2 1 0 2 0 0 0 3
NSMCE2 2 0 1 0 0 0 3
ATRIP, ATRIP-TREX1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 242 29 79 0 350
Genetic Services Laboratory, University of Chicago 11 3 13 0 0 0 27
OMIM 24 0 0 0 0 0 24
Baylor Genetics 2 1 20 0 0 0 23
Fulgent Genetics,Fulgent Genetics 3 2 8 0 0 0 13
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 5 5 0 0 0 11
Mendelics 0 0 3 0 5 0 8
Service de Génétique Moléculaire,Hôpital Robert Debré 3 1 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
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
Stewart Lab,University of Birmingham 0 2 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 1 0 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Developmental Genetics Unit,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
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
New York Genome Center 0 0 1 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 0 1

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