ClinVar Miner

Variants in gene SPTA1

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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
26 9 141 86 48 248

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary pyropoikilocytosis 9 0 119 77 0 205
Spherocytosis, Recessive 0 0 118 78 0 196
Elliptocytosis 0 0 118 77 0 195
not specified 1 0 1 9 46 54
not provided 3 4 20 2 5 34
Elliptocytosis 2 16 1 0 0 0 16
Spherocytosis type 3 3 2 1 0 0 6
Congenital hemolytic anemia 1 2 1 0 0 4
Pyropoikilocytosis 1 0 0 0 0 1
Spherocytosis, type 3, autosomal recessive 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 118 78 0 196
PreventionGenetics 0 0 0 8 42 50
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 17 1 27 47
OMIM 22 0 0 0 0 22
GeneDx 2 4 2 0 0 8
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 1 4 1 0 0 6
MVZ Dortmund,Dr. Eberhard & Partner 1 0 1 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 1 0 2
Nalepa Lab,Indiana University School of Medicine 1 0 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Bioinformatics dept.,Datar Cancer Genetics Limited, India 0 1 0 0 0 1

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