ClinVar Miner

Variants in gene SPTA1

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Minimum submission review status: Collection method:
Minimum conflict level:
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
90 103 574 215 203 943

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 64 76 347 159 201 710
Pyropoikilocytosis, hereditary 13 2 194 21 38 267
Elliptocytosis 2 19 4 138 53 53 263
Hereditary spherocytosis type 3 12 8 186 17 36 258
Inborn genetic diseases 0 0 104 7 0 111
not specified 0 0 12 9 46 64
SPTA1-related condition 2 5 13 22 1 43
Elliptocytosis 0 0 12 6 0 18
Spherocytosis, Recessive 0 0 12 6 0 18
Elliptocytosis 2; Pyropoikilocytosis, hereditary; Hereditary spherocytosis type 3 1 0 0 4 2 7
Hemolytic anemia 0 5 0 0 0 5
Familial hemolytic anemia 1 2 1 0 0 4
Hereditary spherocytosis 2 0 0 0 0 2
Prenatal anemia 2 0 0 0 0 2
Pyropoikilocytosis, hereditary; Hereditary spherocytosis type 3 0 2 0 0 0 2
SPTA1-related disorders 1 1 0 0 0 2
See cases 0 1 1 0 0 2
Abnormality of blood and blood-forming tissues 0 1 0 0 0 1
Anemia 0 1 0 0 0 1
Elliptocytosis 2; Hereditary spherocytosis type 2 0 0 1 0 0 1
Spherocytosis 0 1 0 0 0 1
Spherocytosis, type 3, autosomal recessive 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 32 4 56 97 136 325
Illumina Laboratory Services, Illumina 0 0 192 72 47 245
Revvity Omics, Revvity 15 35 171 2 0 223
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 23 3 86 54 48 214
Mayo Clinic Laboratories, Mayo Clinic 12 31 91 0 0 134
GeneDx 8 4 25 0 84 121
Ambry Genetics 0 0 104 7 0 111
PreventionGenetics, part of Exact Sciences 2 5 13 30 43 93
CeGaT Center for Human Genetics Tuebingen 7 1 7 23 4 42
OMIM 22 0 0 0 0 22
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 22 22
Genome-Nilou Lab 0 0 0 0 22 22
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 20 20
Baylor Genetics 4 0 5 0 0 9
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 2 3 3 0 0 8
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 7 0 0 8
Fulgent Genetics, Fulgent Genetics 1 0 0 4 2 7
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University 3 4 0 0 0 7
Mendelics 2 2 1 0 1 6
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
MVZ Dr. Eberhard & Partner Dortmund 2 1 2 0 0 5
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
3billion 3 0 1 0 0 4
Centogene AG - the Rare Disease Company 0 0 3 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 1 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
Athena Diagnostics Inc 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 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
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 1

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