ClinVar Miner

Variants in gene combination MIR1225, PKD1, TSC2

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 total
22 3 9 0 0 32

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance total
Tuberous sclerosis 2 17 0 7 24
Polycystic kidney disease, adult type 3 2 1 4
See cases 0 1 1 2
not provided 2 1 0 2
Autosomal dominant polycystic kidney disease 0 1 0 1
Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 1 0 0 1
Polycystic kidney disease 0 0 1 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance total
Labcorp Genetics (formerly Invitae), Labcorp 17 0 7 24
GeneDx 0 1 1 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 1 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 2
Fulgent Genetics, Fulgent Genetics 0 1 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 1
Blueprint Genetics 1 0 0 1
ISCA site 14 0 1 0 1
CeGaT Center for Human Genetics Tuebingen 1 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 1 1
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 0 1 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 1

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