ClinVar Miner

Variants in gene GALC

Minimum submission review status: Collection method:
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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 other not provided total
66 109 148 69 84 3 1 415

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Galactosylceramide beta-galactosidase deficiency 48 99 125 50 42 3 0 323
not provided 33 13 32 17 48 0 0 136
not specified 1 0 5 8 29 0 0 40
Abnormality of brain morphology 0 2 0 0 0 0 0 2
Leukodystrophy; Status epilepticus; Global developmental delay; Seizures; EEG abnormality; Nystagmus; Hemiparesis; Strabismus; Progressive visual loss; Amblyopia; Intrauterine growth retardation; Small for gestational age; Breech presentation; Neonatal hypoglycemia; Developmental regression; EMG abnormality; EMG: axonal abnormality; Loss of ability to walk; Dysmyelinating leukodystrophy 0 2 0 0 0 0 0 2
Normal pregnancy 0 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 27 15 17 52 16 3 0 130
Counsyl 3 76 44 4 0 0 0 127
Illumina Clinical Services Laboratory,Illumina 2 3 62 5 32 0 0 104
GeneDx 14 6 5 4 32 0 0 61
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 13 5 13 0 20 0 0 51
PreventionGenetics,PreventionGenetics 0 0 0 5 19 0 0 24
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 5 3 16 0 0 24
Integrated Genetics/Laboratory Corporation of America 12 1 3 1 4 0 0 21
CeGaT Praxis fuer Humangenetik Tuebingen 4 2 8 0 0 0 0 14
OMIM 10 0 0 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 0 9 0 0 10
Mendelics 1 3 0 1 2 0 0 7
Baylor Genetics 4 2 0 0 0 0 0 6
Lineagen, Inc 6 0 1 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 0 1 2 0 0 0 6
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 1 0 3 0 0 4
Fulgent Genetics,Fulgent Genetics 2 0 2 0 0 0 0 4
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 1 1 0 1 0 0 3
Myriad Women's Health, Inc. 2 1 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 1 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 1 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Aziz Sancar Institute of Experimental Medicine,Istanbul University 0 1 0 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 0 1

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