ClinVar Miner

Variants studied for obsolete Heimler syndrome 1

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 not provided total
57 89 33 3 5 2 182

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PEX1 37 55 19 2 5 1 116
GATAD1, PEX1 17 30 12 1 0 1 58
LOC129998796, PEX1 3 4 1 0 0 0 7
PEX26 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 49 83 6 0 0 0 138
Fulgent Genetics, Fulgent Genetics 4 8 16 1 1 0 30
Genome-Nilou Lab 0 0 8 1 4 0 13
OMIM 5 0 0 0 0 0 5
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
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 2 0 0 0 0 0 2
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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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
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

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