ClinVar Miner

Variants studied for communication disorder

Included ClinVar conditions (10):
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 risk factor total
6 2 5 0 0 1 14

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance risk factor total
AP4E1 1 1 2 0 4
NAGPA 0 0 2 0 2
​intergenic 1 0 0 0 1
ADCY5 0 0 1 0 1
ARID1B 0 1 0 0 1
COL4A4 1 0 0 0 1
GBA, LOC106627981 0 0 0 1 1
SCAPER 1 0 0 0 1
SHANK3 1 0 0 0 1
TM4SF20 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance risk factor total
OMIM 2 0 2 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 1 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 0 0 0 1
The Morris Kahn Laboratory of Human Genetics,Ben-Gurion University of the Negev 1 0 0 0 1

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