ClinVar Miner

Variants in gene SYNJ1

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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
20 5 357 152 25 553

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Parkinson disease 20, early-onset; Epileptic encephalopathy, early infantile, 53 10 2 341 117 21 491
not provided 2 1 15 43 11 70
Epileptic encephalopathy, early infantile, 53 5 0 9 0 0 14
Parkinson disease 20, early-onset 3 1 3 0 0 7
Epileptic encephalopathy, early infantile, 1 0 1 2 0 0 3
Inborn genetic diseases 2 0 1 0 0 3
not specified 0 0 1 0 1 2

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 10 2 341 145 21 519
Athena Diagnostics Inc 0 0 4 7 12 23
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 10 5 0 15
OMIM 6 0 0 0 0 6
Baylor Genetics 0 0 3 0 0 3
GeneDx 1 1 1 0 0 3
Ambry Genetics 2 0 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 3
Institute for Human Genetics,University Clinic Freiburg 2 0 0 0 0 2
ICM,Inserm 0 1 1 0 0 2
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 0 0 1 0 0 1

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