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
10 3 130 34 21 194

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 2 1 121 32 17 173
not provided 1 1 6 3 11 22
Epileptic encephalopathy, early infantile, 53 4 0 2 0 0 6
Parkinson disease 20, early-onset 3 0 2 0 0 5
Epileptic encephalopathy, early infantile, 1 0 1 2 0 0 3
Inborn genetic diseases 0 0 1 0 0 1
not specified 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 1 121 32 17 173
Athena Diagnostics Inc 0 0 3 3 11 17
OMIM 6 0 0 0 0 6
GeneDx 1 1 1 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 3
Institute for Human Genetics,University Clinic Freiburg 2 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Ambry Genetics 0 0 1 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 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: University of Minnesota 0 1 0 0 0 1

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