ClinVar Miner

Variants in gene TTI2

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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 total
6 2 55 31 9 94

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Inborn genetic diseases 0 0 34 3 0 37
not provided 1 0 10 21 7 37
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 5 2 9 0 4 19
not specified 0 0 9 4 1 14
TTI2-related disorder 0 0 0 5 4 9
Microcephaly 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 34 3 0 37
Labcorp Genetics (formerly Invitae), Labcorp 1 0 0 14 4 19
Genetic Services Laboratory, University of Chicago 0 0 8 4 1 13
PreventionGenetics, part of Exact Sciences 0 0 0 5 4 9
CeGaT Center for Human Genetics Tuebingen 0 0 2 7 0 9
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 5 9
GeneDx 0 0 8 0 0 8
OMIM 5 0 0 0 0 5
Baylor Genetics 0 0 5 0 0 5
Genome-Nilou Lab 0 0 0 0 3 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 2
Revvity Omics, Revvity 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1

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