ClinVar Miner

Variants studied for Tumor predisposition syndrome 3

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
149 54 1030 665 28 6 1905

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POT1 148 54 1030 665 28 6 1904
RAG1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 136 42 1021 664 28 0 1891
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 3 14 0 0 0 19
OMIM 14 0 0 0 0 0 14
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 4 3 0 0 0 0 7
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 4 2 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 4 0 1 0 6
Molecular Pathology, Peter Maccallum Cancer Centre 0 2 4 0 0 0 6
Center of Human Genetics, Hôpital Erasme 0 3 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1

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