ClinVar Miner

Variants in gene SPATA5

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
49 25 208 72 14 352

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Epilepsy, hearing loss, and mental retardation syndrome 42 14 196 61 10 318
not provided 13 13 15 20 8 66
not specified 0 0 1 1 4 6
Seizures; Intellectual disability 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
Invitae 34 9 185 71 10 309
Athena Diagnostics Inc 0 2 6 1 10 19
GeneDx 6 10 1 1 0 18
Baylor Genetics 1 0 6 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 3 1 2 0 0 6
OMIM 5 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 2 3 0 0 5
Lineagen, Inc 3 0 1 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 2 2 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 2 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 3 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 0 1 3
Genetic Services Laboratory, University of Chicago 0 0 1 0 1 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 0 0 2
Undiagnosed Diseases Network,NIH 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1

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