ClinVar Miner

Variants studied for NMNAT1-related retinopathy

Included ClinVar conditions (2):
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
49 28 67 49 5 1 185

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 not provided total
NMNAT1 48 24 67 49 5 1 180
LOC126805613, NMNAT1 1 4 0 0 0 0 5

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 31 6 65 47 4 0 153
Laboratory of Genetics in Ophthalmology, Institut Imagine 14 20 1 0 0 0 35
OMIM 15 0 0 0 0 0 15
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 1 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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