ClinVar Miner

Variants studied for Familial adenomatous polyposis 3

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
70 41 159 6 1 8 256

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NTHL1 70 41 157 6 1 8 254
LOC130058209, NTHL1 0 0 1 0 0 0 1
NTHL1, TSC2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 9 26 133 0 0 0 168
Myriad Genetics, Inc. 66 14 0 1 0 0 81
Fulgent Genetics, Fulgent Genetics 0 6 31 2 0 0 39
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 1 17 1 0 0 21
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 8 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 2 1 0 5
MGZ Medical Genetics Center 2 0 3 0 0 0 5
Revvity Omics, Revvity 1 1 2 0 0 0 4
OMIM 2 0 0 0 0 0 2
Mendelics 1 1 0 0 0 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
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 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
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 1

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