ClinVar Miner

Variants in gene AHNAK2

Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
0 0 1028 442 107 2 1534

Condition and significance breakdown #

Total conditions: 8
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Condition uncertain significance likely benign benign not provided total
not specified 1020 143 6 0 1169
not provided 10 305 104 2 420
AHNAK2-related disorder 0 2 4 0 6
Abnormality of neuronal migration 0 0 2 0 2
Dysmetria 1 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 1 0 0 1
Enhancement of the C-reflex 1 0 0 0 1
Migraine; Hereditary episodic ataxia 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter uncertain significance likely benign benign not provided total
Ambry Genetics 1020 143 0 0 1163
CeGaT Center for Human Genetics Tuebingen 2 300 89 0 391
Breakthrough Genomics, Breakthrough Genomics 4 4 15 0 23
GeneDx 0 0 7 0 7
Labcorp Genetics (formerly Invitae), Labcorp 0 4 3 0 7
PreventionGenetics, part of Exact Sciences 0 2 4 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 5 0 5
Mayo Clinic Laboratories, Mayo Clinic 2 0 0 0 2
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 2 0 2
Oasi Research Institute-IRCCS 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 1 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 1 1
New York Genome Center 1 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 1 0 0 1

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