ClinVar Miner

Variants studied for Combined deficiency of sialidase AND beta galactosidase

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 total
47 18 144 279 20 489

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CTSA 44 18 131 270 19 465
CTSA, LOC130065974 2 0 6 7 0 13
CTSA, NEURL2 0 0 5 2 0 7
CTSA, PLTP 0 0 2 0 0 2
CD40, CTSA, MMP9, NCOA5, PCIF1, PLTP, SLC12A5, ZNF335 1 0 0 0 0 1
CTSA, NEURL2, SPATA25 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 35 11 118 269 17 450
Illumina Laboratory Services, Illumina 1 0 30 9 7 47
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 4 0 0 0 9
Genome-Nilou Lab 0 0 0 0 6 6
OMIM 5 0 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 1 3 0 4
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 1 0 0 0 2
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 2
Baylor Genetics 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
3billion 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1

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