ClinVar Miner

Variants studied for acrodysostosis with multiple hormone resistance

Included ClinVar conditions (3):
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
15 2 2 0 0 19

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
PDE4D 11 0 1 12
FAM20A, PRKAR1A 4 1 0 5
DEPDC1B, PART1, PDE4D 0 0 1 1
PRKAR1A 0 1 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 14 0 0 14
Genetic Services Laboratory, University of Chicago 1 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 0 0 1
Gene Discovery Core-Manton Center,Boston Children's Hospital 0 1 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 1

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