ClinVar Miner

Variants studied for obsolete Heimler syndrome

Included ClinVar conditions (5):
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
95 197 56 7 15 3 361

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PEX6 32 91 23 3 10 1 155
PEX1 43 68 19 2 5 1 135
GATAD1, PEX1 17 34 12 2 0 1 63
LOC129998796, PEX1 3 4 1 0 0 0 7
PEX26 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 79 190 11 0 0 0 280
Fulgent Genetics, Fulgent Genetics 5 10 31 4 2 0 52
Genome-Nilou Lab 0 0 9 1 14 0 24
OMIM 10 0 0 0 0 0 10
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 9 0 0 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 0 0 0 0 3
Elsea Laboratory, Baylor College of Medicine 1 0 1 0 0 0 2
Counsyl 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 0 1 0 0 0 1
Dental Genetics Laboratory, Seoul National University School of Dentistry 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Inborn Errors of Metabolism, Hospital Clinic, IDIBAPS, CIBERER 1 0 0 0 0 0 1
3billion 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean 0 1 0 0 0 0 1

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