ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 2I

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 not provided total
8 5 6 0 1 2 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 not provided total
MPZ 8 5 5 1 2 20
MPZ, SDHC 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
OMIM 4 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 2 1 1 0 0 4
MGZ Medical Genetics Center 0 1 2 0 0 3
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 2 2
Baylor Genetics 0 1 0 0 0 1
Athena Diagnostics Inc 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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