ClinVar Miner

Variants in gene combination LOC126859837, SYNE1

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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
4 7 68 44 9 117

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 3 1 40 37 3 84
not provided 0 4 48 4 2 57
not specified 0 0 2 9 2 13
Autosomal recessive ataxia, Beauce type 1 1 7 0 1 10
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 0 2 2 4 7
Arthrogryposis multiplex congenita 3, myogenic type 0 0 2 1 1 4
Inborn genetic diseases 0 0 2 0 0 2
SYNE1-related disorder 0 1 1 0 0 2
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 0 1 0 0 0 1
Autosomal recessive myogenic arthrogryposis multiplex congenita 0 0 1 0 0 1
Intellectual disability 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 3 1 40 37 3 84
Eurofins Ntd Llc (ga) 0 1 25 1 0 27
Revvity Omics, Revvity 0 0 21 0 0 21
Athena Diagnostics 0 3 10 5 0 18
GeneDx 0 0 8 5 3 16
Illumina Laboratory Services, Illumina 0 0 6 2 3 6
CeGaT Center for Human Genetics Tuebingen 0 0 4 2 0 6
PreventionGenetics, part of Exact Sciences 0 1 1 0 1 3
Ambry Genetics 0 0 2 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 1 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 1
Blueprint Genetics 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Neurology Laboratory, National Cheng Kung University Hospital 1 1 0 0 0 1
Pediatric Oncology, Johns Hopkins University 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Breakthrough Genomics, Breakthrough Genomics 0 0 1 0 0 1

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