ClinVar Miner

Variants in gene combination GLA, RPL36A-HNRNPH2

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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 drug response other not provided total
213 80 122 62 23 46 1 4 437

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
not provided 139 34 63 29 11 0 1 0 262
Fabry disease 121 48 48 16 9 0 1 3 222
not specified 0 0 23 35 12 0 0 1 63
Deoxygalactonojirimycin response 0 0 0 0 0 46 0 0 46
Cardiovascular phenotype 3 1 5 6 1 0 0 0 16
Cardiomyopathy 1 2 6 1 2 0 0 0 12
Hypertrophic cardiomyopathy 0 0 2 4 1 0 0 0 7
Fabry disease, cardiac variant 5 0 1 0 0 0 0 0 6
Primary familial hypertrophic cardiomyopathy 1 3 2 0 0 0 0 0 6
Fabry disease; Hypertrophic cardiomyopathy 2 1 0 0 0 0 0 0 3
Sudden unexplained death 0 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 125 25 39 1 8 0 1 0 199
Invitae 35 11 25 21 4 0 1 0 97
GeneDx 30 5 19 29 7 0 0 0 90
Integrated Genetics/Laboratory Corporation of America 34 17 9 4 2 0 0 0 66
OMIM 48 0 2 0 0 0 0 0 50
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 5 6 17 13 5 0 0 1 47
Albrecht-Kossel-Institute,Medical University Rostock 21 9 16 0 0 46 0 0 46
Ambry Genetics 3 1 5 6 1 0 0 0 16
Color 0 1 3 6 5 0 0 0 15
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 2 6 1 1 0 0 0 11
Blueprint Genetics 3 3 3 0 0 0 0 0 9
Illumina Clinical Services Laboratory,Illumina 0 1 2 5 1 0 0 0 9
PreventionGenetics,PreventionGenetics 0 0 0 3 5 0 0 0 8
Mendelics 1 1 2 3 1 0 0 0 8
Gharavi Laboratory,Columbia University 2 1 4 1 0 0 0 0 8
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 1 5 0 0 0 7
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 3 2 1 0 0 0 0 7
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 1 4 0 0 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 5 0 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 5 0 0 0 0 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 1 1 1 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 2 0 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 2 0 1 0 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 3 0 0 0 0 4
Counsyl 1 2 0 0 0 0 0 0 3
GeneReviews 1 0 2 0 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 2 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 0 0 0 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 1 1 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 1 0 0 0 0 1
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 0 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 0 1
Center for Inherited Cardiovascular Diseases,IRCCS Fondazione Policlinico San Matteo 1 0 0 0 0 0 0 0 1

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