ClinVar Miner

Variants in gene AKT2

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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
2 1 69 101 38 196

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body hemihypertrophy 1 0 42 78 17 137
not provided 0 1 13 16 24 53
AKT2-related disorder 0 0 3 9 2 14
Inborn genetic diseases 0 0 12 2 0 14
not specified 0 0 4 7 3 13
Type 2 diabetes mellitus 1 0 5 2 0 8
Hypoinsulinemic hypoglycemia and body hemihypertrophy 1 0 1 1 0 3

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 41 84 17 143
GeneDx 0 1 1 0 19 21
Breakthrough Genomics, Breakthrough Genomics 0 0 1 4 14 19
Genetic Services Laboratory, University of Chicago 0 0 4 7 3 14
Ambry Genetics 0 0 12 2 0 14
PreventionGenetics, part of Exact Sciences 0 0 3 9 2 14
CeGaT Center for Human Genetics Tuebingen 0 0 4 7 2 13
Revvity Omics, Revvity 0 0 3 0 0 3
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 2 1 0 3
OMIM 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 2
New York Genome Center 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Athena Diagnostics 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Mendelics 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1

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