ClinVar Miner

Variants in gene combination C12orf43, HNF1A

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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 association uncertain risk allele not provided total
5 7 39 13 32 1 1 2 68

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association uncertain risk allele not provided total
Maturity-onset diabetes of the young type 3 3 1 17 5 7 0 0 1 34
Maturity onset diabetes mellitus in young 0 1 6 3 22 0 1 0 31
Monogenic diabetes 2 4 13 0 3 0 0 0 22
not provided 0 2 10 8 4 0 0 0 21
not specified 0 0 1 0 2 0 0 2 5
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma 0 0 2 0 0 0 0 0 2
Gestational diabetes 0 0 0 0 0 1 0 0 1
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive 1 0 0 0 0 0 0 0 1
Ovarian cancer 0 0 0 0 1 0 0 0 1
Type 2 diabetes mellitus 0 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association uncertain risk allele not provided total
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 1 2 2 23 1 1 0 30
Illumina Laboratory Services, Illumina 0 0 14 4 7 0 0 0 25
ClinGen Monogenic Diabetes Variant Curation Expert Panel 2 4 13 0 3 0 0 0 22
Invitae 0 1 7 6 0 0 0 0 14
GeneDx 0 0 1 2 3 0 0 0 6
Athena Diagnostics Inc 0 1 2 0 2 0 0 0 5
Ambry Genetics 0 0 4 1 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 1 0 0 1 3
OMIM 2 0 0 0 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 0 0 2
ITMI 0 0 0 0 0 0 0 2 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 0 0 0 1
Mendelics 0 0 0 1 0 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 0 0 1
Geisinger Clinic, Geisinger Health System 1 0 0 0 0 0 0 0 1
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 0 0 0 1 0 0 0 1
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 0 0 1 0 0 0 0 0 1

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