ClinVar Miner

Variants in gene POLD1

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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 risk factor not provided total
3 2 1135 860 120 3 3 1939

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Colorectal cancer 10 1 2 931 160 11 3 0 1099
not provided 1 0 216 529 110 0 3 787
Hereditary cancer-predisposing syndrome 2 0 275 302 25 0 0 587
not specified 0 0 59 366 51 0 0 446
Colorectal cancer 10; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 0 0 30 0 0 0 0 30
Familial colorectal cancer 0 0 17 1 0 0 0 18
Colorectal cancer 0 0 5 0 0 0 0 5
Carcinoma of colon 0 0 1 0 0 0 0 1
Colon cancer 0 0 0 1 0 0 0 1
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1 0 915 547 57 0 0 1520
Ambry Genetics 2 0 263 281 25 0 0 571
GeneDx 1 0 120 393 46 0 0 560
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 126 48 73 0 0 233
PreventionGenetics,PreventionGenetics 0 0 27 51 41 0 0 119
Counsyl 0 2 34 57 6 0 0 99
Mendelics 0 0 25 32 0 0 0 56
True Health Diagnostics 0 0 17 29 1 0 0 47
Integrated Genetics/Laboratory Corporation of America 0 0 1 5 38 0 0 44
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 22 13 0 0 0 35
Fulgent Genetics,Fulgent Genetics 0 0 30 0 0 0 0 30
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 20 1 1 0 0 22
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 4 3 1 0 0 9
CSER _CC_NCGL, University of Washington 0 0 6 1 0 0 0 7
Genetic Services Laboratory, University of Chicago 0 0 2 4 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 4 0 0 5
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 5 0 0 0 5
OMIM 1 0 0 0 0 3 0 4
Molecular Oncology Laboratory,Hospital Clínico San Carlos 0 0 3 0 1 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 4 0 0 0 4
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 2 0 0 0 0 2
Vantari Genetics 0 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 0 1 1

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