ClinVar Miner

Variants in gene ANK1

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 total
28 12 226 131 74 375

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Spherocytosis type 1 21 3 169 37 52 274
Spherocytosis 0 0 176 15 11 202
not provided 3 9 9 76 35 131
not specified 0 0 0 10 25 34
Spherocytosis, Dominant 0 0 9 3 0 12
Spherocytosis, type 1, autosomal recessive 5 0 0 0 2 5
Anemia 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 193 54 37 225
Invitae 0 1 0 74 35 110
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 12 1 31 0 34 78
PreventionGenetics, PreventionGenetics 0 0 0 9 25 34
OMIM 9 0 0 0 0 9
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 6 1 0 0 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 6 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 2 1 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 6
GeneDx 1 1 1 0 0 3
Mendelics 0 0 0 1 2 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 3
Baylor Genetics 0 0 2 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 1 1 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 2 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1

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