ClinVar Miner

Variants in gene AK2

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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
19 14 79 69 27 193

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Reticular dysgenesis 19 6 66 56 12 155
not provided 1 2 7 17 18 41
AK2-related disorder 0 0 4 9 1 14
Inborn genetic diseases 0 0 14 0 0 14
Severe combined immunodeficiency disease 2 6 0 0 0 8
not specified 0 0 4 0 3 6

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 10 3 63 56 12 144
GeneDx 0 0 4 6 15 25
Breakthrough Genomics, Breakthrough Genomics 0 0 2 7 9 18
Ambry Genetics 1 0 14 0 0 15
PreventionGenetics, part of Exact Sciences 0 0 4 9 1 14
OMIM 11 0 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 6 2 0 0 10
CeGaT Center for Human Genetics Tuebingen 1 0 0 3 2 6
Fulgent Genetics, Fulgent Genetics 0 1 3 1 0 5
Baylor Genetics 1 0 2 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 2
Revvity Omics, Revvity 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Blueprint Genetics 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 1

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