ClinVar Miner

Variants in gene TTC7A

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 not provided total
61 38 411 412 115 2 980

Condition and significance breakdown #

Total conditions: 10
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Multiple gastrointestinal atresias 39 13 339 383 38 0 804
not provided 3 9 36 40 87 1 168
Inborn genetic diseases 0 0 109 3 0 0 112
Gastrointestinal defects and immunodeficiency syndrome 1 24 17 17 1 5 0 61
not specified 0 0 11 2 24 0 37
TTC7A-related disorder 1 2 2 23 3 0 31
Gastrointestinal defect and immunodeficiency syndrome 1 5 0 0 0 1 7
See cases 2 0 0 1 0 0 3
Common variable immunodeficiency 2 0 0 0 0 0 2
Severe combined immunodeficiency disease 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 37 10 330 385 38 0 800
Ambry Genetics 0 0 109 3 0 0 112
GeneDx 1 6 11 12 80 0 110
Breakthrough Genomics, Breakthrough Genomics 0 0 3 12 55 0 70
CeGaT Center for Human Genetics Tuebingen 0 2 10 19 2 0 33
PreventionGenetics, part of Exact Sciences 1 2 2 23 3 0 31
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 22 0 22
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 5 11 1 0 0 19
OMIM 18 0 0 0 0 0 18
Fulgent Genetics, Fulgent Genetics 2 11 4 0 0 0 17
Mayo Clinic Laboratories, Mayo Clinic 0 0 9 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 7 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 1 0 7
Baylor Genetics 0 1 5 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 1 0 0 0 6
Aleixo Muise Laboratory, Hospital For Sick Children 3 3 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 5 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 3 0 4
Revvity Omics, Revvity 2 0 2 0 0 0 4
Eurofins Ntd Llc (ga) 2 0 0 0 1 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 1 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Pediatrie Multidisciplinaire, Assitance Publique des Hopitaux de Marseille 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
3billion 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 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.