ClinVar Miner

Variants in gene PAFAH1B1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
98 21 67 47 21 1 244

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Lissencephaly 1 87 17 4 0 2 1 110
Lissencephaly/Subcortical Band Heterotopia 0 0 49 40 10 0 99
not provided 16 4 7 0 2 0 29
not specified 0 0 6 9 9 0 22
See cases 3 0 1 1 0 0 5
Subcortical band heterotopia 3 0 0 0 0 0 3
Inborn genetic diseases 1 1 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genetic Services Laboratory, University of Chicago 79 13 8 4 4 0 108
Illumina Clinical Services Laboratory,Illumina 0 0 49 40 10 0 99
GeneDx 17 4 1 5 3 0 30
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 6 3 4 0 15
OMIM 10 0 0 0 0 0 10
PreventionGenetics 0 0 0 0 8 0 8
GeneReviews 6 0 0 0 2 0 8
Baylor Genetics 2 1 0 0 0 0 3
Ambry Genetics 1 1 0 0 0 0 2
ISCA site 1 1 0 1 0 0 0 2
ISCA site 4 0 0 1 1 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 1 1 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1

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