ClinVar Miner

Variants studied for renal-hepatic-pancreatic dysplasia

Included ClinVar conditions (6):
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 total
31 50 399 58 25 553

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NPHP3, NPHP3-ACAD11 18 39 245 43 20 358
NEK8 12 11 118 11 2 152
LOC129937586, NPHP3, NPHP3-ACAD11 1 0 31 3 2 36
LOC130060573, NEK8 0 0 2 1 0 3
LOC129937587, NPHP3, NPHP3-ACAD11 0 0 1 0 1 2
LOC130060574, NEK8 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 16 42 329 50 1 438
Illumina Laboratory Services, Illumina 0 0 71 8 21 100
OMIM 14 0 0 0 0 14
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 2 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 5
Mendelics 1 0 0 0 3 4
Baylor Genetics 0 0 3 0 0 3
MVZ Medizinische Genetik Mainz 0 0 3 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 2
Molecular Genetics, Sichuan Provincial Maternity and Child Health Care Hospital 1 1 0 0 0 2
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 1
3billion, Medical Genetics 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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