ClinVar Miner

Variants studied for Intellectual disability, autosomal recessive 1

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
1 5 89 11 10 2 114

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PRSS12 1 5 89 11 10 2 114

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 68 10 10 0 88
Baylor Genetics 0 0 9 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 5 1 0 0 6
Revvity Omics, Revvity 0 0 4 0 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
OMIM 1 0 0 0 0 0 1

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