ClinVar Miner

Variants in gene POLD1

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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 risk factor not provided total
3 2 901 669 89 3 3 1519

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 2 761 407 56 3 0 1210
not specified 0 0 66 367 51 0 0 453
Hereditary cancer-predisposing syndrome 2 0 163 270 24 0 0 442
not provided 1 0 177 70 59 0 3 299
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: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1 0 747 359 54 0 0 1161
GeneDx 1 0 120 358 30 0 0 509
Ambry Genetics 2 0 151 249 24 0 0 426
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 95 48 53 0 0 181
PreventionGenetics 0 0 27 51 41 0 0 119
Counsyl 0 2 34 57 6 0 0 99
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
Fulgent Genetics 0 0 30 0 0 0 0 30
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 19 1 1 0 0 21
Mendelics 0 0 17 0 0 0 0 17
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 4 3 1 0 0 9
CSER_CC_NCGL; University of Washington Medical Center 0 0 6 1 0 0 0 7
Genetic Services Laboratory, University of Chicago 0 0 2 4 0 0 0 6
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
CeGaT Praxis fuer Humangenetik Tuebingen 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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