ClinVar Miner

Variants studied for Goldmann-Favre syndrome

Included ClinVar conditions (4):
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
26 49 130 37 16 236

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NR2E3 25 49 130 37 16 235
NRL 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 10 2 84 17 14 127
Baylor Genetics 19 43 0 0 0 62
Illumina Laboratory Services, Illumina 0 0 48 6 6 60
Counsyl 1 1 16 13 1 32
Fulgent Genetics, Fulgent Genetics 3 0 12 2 0 17
OMIM 5 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 1 0 0 0 4
Sharon lab, Hadassah-Hebrew University Medical Center 4 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 1 0 0 3
Genome-Nilou Lab 0 0 1 0 2 3
Hadassah Hebrew University Medical Center 2 0 0 0 0 2
Myriad Genetics, Inc. 2 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 1
Mendelics 1 0 0 0 0 1
Rappaport Faculty of Medicine, Technion-Israel Institute of Technology 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 1
3billion 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 1

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