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:
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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
52 35 144 291 20 1 515

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 not provided total
CTSA 48 35 131 282 19 1 490
CTSA, LOC130065974 3 0 6 7 0 0 14
CTSA, NEURL2 0 0 5 2 0 0 7
CTSA, PLTP 0 0 2 0 0 0 2
CD40, CTSA, MMP9, NCOA5, PCIF1, PLTP, SLC12A5, ZNF335 1 0 0 0 0 0 1
CTSA, NEURL2, SPATA25 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 40 13 119 281 17 0 470
Illumina Laboratory Services, Illumina 1 0 28 9 7 0 45
Fulgent Genetics, Fulgent Genetics 2 16 4 3 0 0 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 5 0 0 0 0 11
Genome-Nilou Lab 0 0 0 0 6 0 6
OMIM 5 0 0 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 1 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 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 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
3billion 1 0 0 0 0 0 1
Baylor Genetics 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
New York Genome Center 0 1 0 0 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 0 1

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