ClinVar Miner

Variants studied for multiple intestinal atresia

Included ClinVar conditions (1):
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
39 13 381 370 45 1 840

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTC7A 35 12 331 337 38 0 745
MCFD2, TTC7A 3 0 29 14 3 0 49
LOC126806211, TTC7A 1 1 20 19 4 1 45
CALM2, STPG4, TTC7A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 37 10 372 369 45 0 833
Baylor Genetics 0 1 5 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Pediatrie Multidisciplinaire, Assitance Publique des Hopitaux de Marseille 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 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.