ClinVar Miner

Variants studied for Intellectual disability-developmental delay-contractures syndrome

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
14 4 0 0 0 1 18

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic not provided total
ZC4H2 14 4 1 18

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic not provided total
OMIM 8 0 0 8
Undiagnosed Diseases Network,NIH 1 1 0 2
Mendelics 0 1 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 1
GenomeConnect, ClinGen 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 1

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