ClinVar Miner

Variants in gene APRT

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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
62 20 61 32 10 6 160

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Adenine phosphoribosyltransferase deficiency 55 17 41 5 1 6 107
not provided 10 3 20 29 9 0 70
Inborn genetic diseases 0 0 6 0 0 0 6
APRT-related disorder 0 0 1 3 0 0 4
APRT deficiency, Japanese type 1 0 0 0 0 0 1
See cases 0 1 0 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
Labcorp Genetics (formerly Invitae), Labcorp 10 3 19 24 2 0 58
APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland 53 3 0 0 0 0 56
Fulgent Genetics, Fulgent Genetics 7 10 29 3 0 0 49
Illumina Laboratory Services, Illumina 0 0 12 2 1 0 15
GeneDx 0 0 0 5 7 0 12
OMIM 9 0 0 0 0 0 9
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 5 0 7
Ambry Genetics 0 0 6 0 0 0 6
GeneReviews 0 0 0 0 0 6 6
PreventionGenetics, part of Exact Sciences 0 0 1 3 0 0 4
Revvity Omics, Revvity 1 1 1 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 0 1 1 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 1
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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