ClinVar Miner

Variants in gene SPTA1

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Minimum submission review status: Collection method:
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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
45 20 241 91 78 359

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary pyropoikilocytosis 11 2 193 21 31 258
Elliptocytosis 2 20 1 131 53 46 249
Spherocytosis type 3 6 3 185 17 29 239
none provided 10 0 29 0 43 82
not provided 3 6 25 20 34 82
not specified 1 2 12 9 46 66
Elliptocytosis 0 0 12 6 0 18
Spherocytosis, Recessive 0 0 12 6 0 18
Hemolytic anemia 0 5 0 0 0 5
Congenital hemolytic anemia 1 2 1 0 0 4
Hereditary spherocytosis 2 0 0 0 0 2
Prenatal anemia 2 0 0 0 0 2
Anemia 0 1 0 0 0 1
Elliptocytosis 2; Spherocytosis type 2 0 0 1 0 0 1
Inborn genetic diseases 0 0 1 0 0 1
Pyropoikilocytosis 1 0 0 0 0 1
SPTA1-related disorders 0 1 0 0 0 1
Spherocytosis, type 3, autosomal recessive 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 192 72 47 244
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 11 2 54 1 46 114
Invitae 1 1 2 16 34 54
PreventionGenetics, PreventionGenetics 0 0 0 8 42 50
OMIM 22 0 0 0 0 22
Baylor Genetics 6 0 5 0 0 11
GeneDx 2 4 2 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 3 4 0 8
NIHR Bioresource Rare Diseases, University of Cambridge 0 6 0 0 0 6
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 1 4 1 0 0 6
Mendelics 1 2 0 0 1 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 3 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 0 0 4
MVZ Dr. Eberhard & Partner Dortmund 2 0 1 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 1 2
Rare Disease Group, Clinical Genetics,Karolinska Institutet 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 2
Nalepa Lab,Indiana University School of Medicine 1 0 1 0 0 2
Ambry Genetics 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 1

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