ClinVar Miner

Variants in gene GPD1L

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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
4 1 194 187 56 2 402

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Brugada syndrome 0 0 119 133 14 0 266
Cardiovascular phenotype 0 0 93 78 8 0 179
not provided 0 0 37 31 37 0 103
not specified 0 0 10 13 16 0 37
Brugada syndrome 2 4 0 26 11 1 2 36
GPD1L-related disorder 0 0 1 8 0 0 9
Long QT syndrome 0 0 2 0 0 0 2
Brugada syndrome (shorter-than-normal QT interval) 0 1 0 0 0 0 1
Cardiomyopathy 0 0 0 1 0 0 1
Death in infancy 1 0 0 0 0 0 1
Hypertrophic cardiomyopathy 0 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Primary familial hypertrophic cardiomyopathy; Long QT syndrome 0 0 0 1 0 0 1
SUDDEN INFANT DEATH SYNDROME 0 0 0 1 0 0 1
Schizophrenia 0 0 1 0 0 0 1
Sudden cardiac death 0 0 1 0 0 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 118 133 14 0 265
Ambry Genetics 0 0 93 78 8 0 179
GeneDx 0 0 23 35 43 0 101
Fulgent Genetics, Fulgent Genetics 0 0 19 8 0 0 27
Breakthrough Genomics, Breakthrough Genomics 0 0 1 6 15 0 22
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 5 5 7 0 18
PreventionGenetics, part of Exact Sciences 0 0 1 8 1 0 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 3 3 2 0 8
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 4 3 0 0 7
Clinical Genetics, Academic Medical Center 0 0 2 1 4 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 4 0 1 0 5
AiLife Diagnostics, AiLife Diagnostics 0 0 5 0 0 0 5
OMIM 4 0 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 1 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 1 1 0 3
Blueprint Genetics 0 0 2 1 0 0 3
GeneReviews 0 0 0 0 0 2 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 0 2 0 0 2
Dept of Medical Biology, Uskudar University 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 1 0 0 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
SYNLAB MVZ HG Mannheim GmbH, Zentrum für Humangenetik Mannheim 0 0 1 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 0 1 0 0 0 1

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