ClinVar Miner

Variants in gene SYNJ1

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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 not provided total
37 14 687 592 59 2 1363

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 27 8 627 540 43 1 1244
not provided 4 4 54 74 31 0 159
Inborn genetic diseases 2 0 72 2 0 0 76
SYNJ1-related condition 1 0 3 14 3 0 21
Developmental and epileptic encephalopathy, 53 5 0 11 0 3 0 19
Early-onset Parkinson disease 20 3 3 5 0 3 0 14
not specified 0 0 5 0 8 0 13
Developmental and epileptic encephalopathy, 1 0 1 2 0 0 1 4

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 27 8 627 546 43 0 1251
GeneDx 2 1 22 42 25 0 92
Ambry Genetics 2 0 72 2 0 0 76
CeGaT Center for Human Genetics Tuebingen 0 0 18 32 1 0 51
Athena Diagnostics Inc 0 1 6 6 13 0 26
PreventionGenetics, part of Exact Sciences 1 0 3 14 3 0 21
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 6 0 11
Revvity Omics, Revvity 1 2 5 0 0 0 8
OMIM 6 0 0 0 0 0 6
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 6 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 4 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Institute for Human Genetics, University Medical Center Freiburg 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 0 2
ICM, Inserm 0 1 1 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1

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