ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease, demyelinating, IIA 1H

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 total
5 2 2 0 0 8

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
FBLN5 5 2 2 8

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 5 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 2 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 1

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