ClinVar Miner

Variants in gene SYNE2

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 not provided total
1 2 1011 439 338 1 1537

Condition and significance breakdown #

Total conditions: 8
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 1 0 839 322 327 0 1361
not provided 0 2 208 110 29 1 340
not specified 0 0 25 76 92 0 166
Emery-Dreifuss muscular dystrophy 0 0 7 3 0 0 10
See cases 0 0 3 0 0 0 3
Primary dilated cardiomyopathy 0 0 2 0 0 0 2
Obstructive sleep apnea syndrome; Obesity; Cardiomyopathy; Glaucoma; Muscle weakness; Specific learning disability; Panhypopituitarism; Generalized hypotonia; Gastroesophageal reflux; Limb-girdle muscle weakness 0 0 1 0 0 0 1
Restrictive cardiomyopathy; Long QT syndrome 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 689 315 138 0 1142
Illumina Clinical Services Laboratory,Illumina 0 0 154 65 293 0 512
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 153 29 36 0 218
Athena Diagnostics Inc 0 0 51 18 58 0 127
Genetic Services Laboratory, University of Chicago 0 0 2 43 29 0 74
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 20 3 0 0 24
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 17 0 21
Baylor Genetics 0 0 10 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 8 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 7 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 5 1 1 0 7
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 1 2 0 7
GeneDx 0 0 4 1 0 0 5
Blueprint Genetics 0 0 3 2 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 2 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 3 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 0 1 0 3
ISCA site 1 0 0 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 0 0 2
OMIM 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 1
Seelig Lab,University of Washington 0 0 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.