ClinVar Miner

Variants studied for Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia

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 not provided total
7 0 9 0 1 1 17

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance benign not provided total
DOCK3 7 9 1 1 17

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic uncertain significance benign not provided total
OMIM 7 0 0 0 7
Baylor Genetics 0 4 0 0 4
Revvity Omics, Revvity 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 1 1
New York Genome Center 0 1 0 0 1
Genome-Nilou Lab 0 0 1 0 1

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