ClinVar Miner

Variants studied for Mulibrey nanism syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
23 58 79 7 11 167

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
TRIM37 22 55 75 7 11 159
LOC126862606, TRIM37 0 1 3 0 0 4
LOC126862606, LOC130061313, LOC130061314, LOC130061315, LOC130061316, LOC130061317, MIR301A, MIR454, PRR11, SKA2, TRIM37 0 1 0 0 0 1
PNPLA7 0 0 1 0 0 1
PPM1E, TRIM37 0 1 0 0 0 1
TRPM3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 71 7 10 88
Baylor Genetics 13 44 0 0 0 57
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 11 0 0 0 12
OMIM 8 0 0 0 0 8
Revvity Omics, Revvity 1 1 2 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 3 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Fetal Health Research Center, Hope Generation Foundation 1 0 0 0 0 1

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