ClinVar Miner

Variants studied for Acute intermittent porphyria

Coded as:
Minimum submission review status: Collection method:
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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 total
45 6 26 13 14 96

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HMBS 45 6 26 9 10 88
DPAGT1, HMBS 0 0 0 4 4 8

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 0 19 12 12 44
OMIM 41 0 0 0 0 41
CSER _CC_NCGL, University of Washington 0 1 3 2 0 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 3 3
Mount Sinai Diagnostic Laboratory,Icahn School of Medicine at Mount Sinai 2 0 0 0 1 3
Endocrinology Department, First Hospital Of Shanxi Medical University 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 1
Mendelics 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Medical Genetics,Hospital Clinico Universitario Virgen de la Arrixaca 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 0 0 1 0 1

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