ClinVar Miner

Variants in gene TTC7A

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Minimum submission review status: Collection method:
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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 total
35 12 197 94 28 346

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Multiple gastrointestinal atresias 33 6 192 75 24 320
not provided 2 6 6 25 1 40
not specified 0 0 2 1 3 6
Common variable immunodeficiency 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 15 3 183 86 25 312
OMIM 17 0 0 0 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 4 4 0 10
Baylor Genetics 0 1 5 0 0 6
GeneDx 0 3 2 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 3 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 2 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 0 0 1 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 0 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 0 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 2 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
Pediatrie Multidisciplinaire,Assitance Publique des Hopitaux de Marseille 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1

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