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
5 3 1654 969 131 3 3 2558

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Colorectal cancer 10 3 2 1482 660 64 3 0 2179
Hereditary cancer-predisposing syndrome 2 0 274 304 25 0 0 587
not provided 2 0 235 246 95 0 3 549
not specified 0 0 57 371 63 0 0 449
Carcinoma of colon 0 0 8 12 11 0 0 31
Colorectal cancer 10; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 0 0 30 0 0 0 0 30
Familial colorectal cancer 0 0 16 1 0 0 0 17
none provided 0 0 3 2 7 0 0 12
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 1 0 8 1 0 0 0 10
Polymerase proofreading-related adenomatous polyposis 0 0 2 5 2 0 0 9
Malignant tumor of breast 0 0 4 2 1 0 0 7
Colorectal cancer 1 0 5 0 0 0 0 6
Endometrial carcinoma 0 0 1 2 0 0 0 3
Bile duct cancer 0 0 0 1 0 0 0 1
Carcinoma of pancreas 1 0 0 0 0 0 0 1
Familial ovarian cancer 0 0 0 1 0 0 0 1
Intellectual disability 0 1 0 0 0 0 0 1
Malignant tumor of colon 0 0 0 1 0 0 0 1
POLD1-related disorders 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 3 0 1466 667 62 0 0 2198
Ambry Genetics 2 0 261 283 25 0 0 571
GeneDx 1 0 120 393 46 0 0 560
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 142 55 79 0 0 262
PreventionGenetics, PreventionGenetics 0 0 27 51 41 0 0 119
Counsyl 0 2 34 57 6 0 0 99
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 20 25 17 0 0 63
Integrated Genetics/Laboratory Corporation of America 0 0 4 11 44 0 0 59
Mendelics 0 0 24 32 0 0 0 56
True Health Diagnostics 0 0 17 29 1 0 0 47
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 26 18 0 0 0 44
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 2 9 0 0 14
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
OMIM 1 0 1 0 0 3 0 5
Baylor Genetics 0 0 5 0 0 0 0 5
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 5 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 1 0 0 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 0 0 1 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 0 0 1 0 0 1
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Malades 0 1 0 0 0 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
CZECANCA consortium 1 0 0 0 0 0 0 1
Genomic Center,National Cancer Institute 1 0 0 0 0 0 0 1

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