ClinVar Miner

Variants in gene NTHL1

See also:
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 total
35 15 400 150 3 587

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 33 14 384 137 3 565
Hereditary cancer-predisposing syndrome 6 4 77 34 0 121
Familial adenomatous polyposis 3 2 2 5 1 0 10
not specified 0 0 0 6 0 6

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 33 12 380 131 3 559
Ambry Genetics 6 4 77 34 0 121
GeneDx 1 4 0 14 0 19
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 2 1 0 4
Baylor Genetics 1 0 2 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 3
OMIM 2 0 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 0 0 2
Molecular Oncology Laboratory,Hospital Clínico San Carlos 0 0 2 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 1
Mendelics 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Academic Department of Medical Genetics, University of Cambridge 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1

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