ClinVar Miner

Variants studied for Intellectual developmental disorder with autistic features and language delay, with or without seizures

Coded as:
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
6 7 60 3 0 2 77

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
TANC2 4 6 51 1 2 63
LOC105371856, TANC2 2 1 8 2 0 13
MARCHF10, MRC2, TANC2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Revvity Omics, Revvity 0 1 16 0 0 17
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 5 1 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 0 8 0 0 8
New York Genome Center 0 1 6 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 1 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 1 1 0 0 5
MGZ Medical Genetics Center 0 0 4 0 0 4
Baylor Genetics 1 0 2 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 3 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 2
Illumina Laboratory Services, Illumina 0 0 2 0 0 2
GenomeConnect, ClinGen 0 0 0 0 2 2
3billion, Medical Genetics 0 0 1 1 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Laboratorio Genetica Umana, Istituto Giannina Gaslini 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 1
Genetics Department, Catlab 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.