ClinVar Miner

Variants in gene AP1S2

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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
19 6 25 26 14 1 84

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 7 2 20 25 14 0 64
Pettigrew syndrome 13 4 1 0 0 0 17
Inborn genetic diseases 1 0 5 2 1 0 9
not specified 0 0 0 5 0 0 5
AP1S2-related disorder 0 0 1 1 0 0 2
Pettigrew syndrome; Fried syndrome 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 1 10 19 10 0 40
GeneDx 5 0 9 2 4 0 20
Ambry Genetics 1 0 5 2 1 0 9
CeGaT Center for Human Genetics Tuebingen 1 1 1 4 0 0 7
OMIM 6 0 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 2 0 0 2 0 0 4
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 1 0 3
PreventionGenetics, part of Exact Sciences 0 0 1 1 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 1 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 0 1 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Neurogenetics Research Program, University of Adelaide 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
3billion 0 1 0 0 0 0 1

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