ClinVar Miner

Variants studied for Naxos disease

Coded as:
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
6 3 101 9 8 127

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
JUP 6 3 98 9 7 123
JUP, LOC130060847 0 0 3 0 1 4

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 95 9 5 109
OMIM 5 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 5
Genome-Nilou Lab 0 0 0 0 5 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 2
Labcorp Genetics (formerly Invitae), Labcorp 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 1 0 0 0 1

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