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
205 75 119 52 18 46 1 4 410

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
not provided 139 33 61 4 6 0 1 0 234
Fabry disease 106 46 42 22 9 0 1 3 206
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 0 0 2 0 0 0 0 0 2
Sudden unexplained death 0 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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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
GeneDx 30 4 19 23 4 0 0 0 80
Invitae 21 9 20 13 3 0 1 0 67
Integrated Genetics/Laboratory Corporation of America 33 18 8 4 2 0 0 0 65
OMIM 46 0 2 0 0 0 0 0 48
Albrecht-Kossel-Institute,Medical University Rostock 21 9 16 0 0 46 0 0 46
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 6 17 13 5 0 0 1 45
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 0 0 0 3 5 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
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 1 4 0 0 0 0 0 6
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
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 1 0 0 0 3
GeneReviews 1 0 2 0 0 0 0 0 3
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 1 0 0 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 2 1 0 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 0 0 0 0 0 2
Counsyl 0 1 0 0 0 0 0 0 1
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

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