ClinVar Miner

Variants in gene NGLY1

Minimum submission review status: Collection method:
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Gene type:
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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
39 23 165 73 12 297

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Congenital disorder of deglycosylation 34 10 163 48 8 260
not provided 12 11 1 16 0 40
not specified 0 0 1 15 4 20
Inborn genetic diseases 3 0 0 0 0 3
Abnormality of brain morphology 0 1 0 0 0 1
Global developmental delay; Lactic acidosis; Intrauterine growth retardation 0 0 1 0 0 1
Intellectual disability; Peripheral neuropathy; Neuromotor delay 0 1 0 0 0 1
Neurodevelopmental abnormality 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 18 5 158 58 8 247
GeneDx 12 10 0 16 3 41
Medical Biochemical Genetics, National Human Genome institute, NIH,National Institutes of Health 9 0 0 0 0 9
OMIM 8 0 0 0 0 8
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 1 0 4 7
Fulgent Genetics,Fulgent Genetics 1 1 4 0 0 6
Baylor Genetics 2 0 3 0 0 5
Ambry Genetics 3 0 0 0 0 3
GeneReviews 3 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 2 1 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 1

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