ClinVar Miner

Variants in gene GALC

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 not provided total
46 91 109 30 46 1 277

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Galactosylceramide beta-galactosidase deficiency 33 81 86 18 28 0 222
not provided 22 10 27 6 19 0 79
not specified 1 0 5 8 28 0 40
Abnormality of brain morphology 0 2 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 2
Normal pregnancy 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 2 73 45 4 0 0 124
Illumina Clinical Services Laboratory,Illumina 1 2 33 14 17 0 67
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 13 5 13 0 20 0 51
GeneDx 14 6 5 3 3 0 31
Invitae 8 3 7 0 11 0 29
PreventionGenetics 0 0 0 5 19 0 24
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 5 3 16 0 24
Integrated Genetics/Laboratory Corporation of America 12 1 3 1 4 0 21
OMIM 10 0 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 0 9 0 10
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 0 1 2 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 0 0 0 5
Fulgent Genetics 2 0 2 0 0 0 4
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 1 0 3 0 4
Genetic Services Laboratory, University of Chicago 1 0 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 0 1
Aziz Sancar Institute of Experimental Medicine,Istanbul University 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1

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