ClinVar Miner

Variants studied for Galactosylceramide beta-galactosidase deficiency

Coded as:
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 total
39 91 116 72 32 3 321

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other total
GALC 39 91 92 19 20 3 232
PSAP 0 0 24 30 1 0 55
CDH23, PSAP 0 0 0 23 11 0 34

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Illumina Clinical Services Laboratory,Illumina 1 2 57 67 29 0 156
Counsyl 3 76 44 4 0 0 127
Invitae 16 8 13 0 1 3 41
Integrated Genetics/Laboratory Corporation of America 12 1 0 0 0 0 13
OMIM 10 0 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 0 9 0 10
Mendelics 1 3 0 1 2 0 7
Baylor Genetics 4 2 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 2 0 2 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 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
Foundation for Research in Genetics and Endocrinology, FRIGE's 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
Ege University Pediatric Genetics,Ege University 0 0 1 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
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 1

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