ClinVar Miner

Variants studied for trophoblastic neoplasm

Included ClinVar conditions (5):
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
24 8 92 15 16 111 235

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NLRP7 8 1 60 8 8 41 112
NCR1, NLRP7 7 3 28 6 7 69 107
KHDC3L 4 1 1 0 1 0 6
MEI1 3 2 1 1 0 0 6
TOP6BL 2 1 1 0 0 0 3
KIR3DL1, NLRP7 0 0 1 0 0 1 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 111 111
Illumina Laboratory Services, Illumina 2 0 83 11 11 0 107
OMIM 21 0 0 0 0 0 21
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 1 0 2 3 6 0 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 4 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 2 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Revvity Omics, Revvity 1 0 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 1 0 1 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
Medical Genetics Laboratory, Tarbiat Modares University 0 2 0 0 0 0 2
Yatsenko Laboratory, Magee-Womens Research Institute, University of Pittsburgh 0 1 0 1 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 0 1

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