ClinVar Miner

Variants in gene ANK1

Minimum submission review status: Collection method:
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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
16 4 91 52 27 164

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Spherocytosis, Dominant 0 0 83 44 0 127
not specified 0 0 0 10 25 34
not provided 3 3 9 1 4 20
Spherocytosis type 1 9 1 0 0 6 16
Spherocytosis, type 1, autosomal recessive 5 0 0 0 0 5
Anemia 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 83 44 0 127
PreventionGenetics 0 0 0 9 25 34
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 5 0 17 24
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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 6 6
GeneDx 1 1 1 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 1
MVZ Dortmund,Dr. Eberhard & Partner 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1

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