ClinVar Miner

Variants in gene SYNE2

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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 not provided total
1 3 476 268 150 1 749

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 1 1 204 77 115 0 391
Emery-Dreifuss muscular dystrophy 0 0 114 184 53 0 351
not provided 0 2 173 11 10 1 195
not specified 0 0 27 77 67 0 156
See cases 0 0 3 0 0 0 3
Primary dilated cardiomyopathy 0 0 2 0 0 0 2
Cardiomyopathy, restrictive; Long QT syndrome 0 0 1 0 0 0 1
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

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 197 76 103 0 376
Illumina Clinical Services Laboratory,Illumina 0 0 114 184 53 0 351
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 153 29 36 0 218
Genetic Services Laboratory, University of Chicago 0 0 3 43 28 0 74
Athena Diagnostics Inc 0 0 28 12 17 0 57
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 17 0 21
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 11 0 0 0 12
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 1 5 0 0 0 6
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 1 0 3
ISCA site 1 0 0 3 0 0 0 3
Fulgent Genetics 0 0 2 0 0 0 2
OMIM 1 0 0 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

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