ClinVar Miner

Variants studied for Renal-hepatic-pancreatic dysplasia 2

Coded as:
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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
11 3 7 0 1 21

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
NEK8 11 3 6 1 20
LOC130060574, NEK8 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 10 0 0 0 10
Baylor Genetics 0 0 3 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Genome-Nilou Lab 0 0 0 1 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 1

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