ClinVar Miner

Variants in gene NTHL1

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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
101 58 871 520 14 9 1463

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 78 26 740 426 10 0 1239
Hereditary cancer-predisposing syndrome 32 19 501 238 0 0 769
Familial adenomatous polyposis 3 59 38 102 3 0 8 186
not specified 0 0 25 36 6 0 66
NTHL1-related condition 1 0 14 13 2 0 30
NTHL1-related conditions 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 77 16 707 414 9 0 1223
Ambry Genetics 31 12 473 236 0 0 752
GeneDx 4 11 116 36 1 0 168
Baylor Genetics 9 24 89 0 0 0 122
Sema4, Sema4 2 8 75 26 0 0 111
Myriad Genetics, Inc. 55 12 0 0 0 0 67
Quest Diagnostics Nichols Institute San Juan Capistrano 2 4 42 14 3 0 65
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 3 0 23 32 4 0 62
PreventionGenetics, part of Exact Sciences 1 0 14 13 2 0 30
CeGaT Center for Human Genetics Tuebingen 2 0 7 7 0 0 16
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 11 1 0 0 13
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 2 5 0 0 0 9
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 9 9
Fulgent Genetics, Fulgent Genetics 0 2 5 1 0 0 8
MGZ Medical Genetics Center 2 0 3 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 2 2 0 0 4
Revvity Omics, Revvity 1 1 2 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 2 1 0 0 4
Clinical Genetics, Academic Medical Center 1 0 1 0 1 0 3
Mendelics 1 1 1 0 0 0 3
OMIM 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 0 0 2
Eurofins Ntd Llc (ga) 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 1 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Molecular Oncology Laboratory, Hospital Clínico San Carlos 0 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Academic Department of Medical Genetics, University of Cambridge 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 1

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