ClinVar Miner

Variants studied for Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism; Charcot-Marie-Tooth disease, demyelinating, IIA 1I

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
0 0 2 0 0 2

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination uncertain significance total
LOC100287944, POLR3B 1 1
POLR3B 1 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter uncertain significance total
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1
New York Genome Center 1 1

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