ClinVar Miner

Variants in gene CTSD

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Minimum submission review status: Collection method:
Minimum conflict level:
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
31 13 250 334 46 612

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Neuronal ceroid lipofuscinosis 23 9 172 296 16 514
not provided 1 3 50 33 17 101
Neuronal ceroid lipofuscinosis 10 8 1 53 11 13 79
not specified 0 0 6 38 31 69
Inborn genetic diseases 0 1 29 26 8 64
CTSD-related condition 0 0 0 9 1 10
Exaggerated startle response; Severe microlissencephaly 0 1 0 0 0 1
See cases 0 0 1 0 0 1
Seizure; Intellectual disability 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 23 7 172 296 16 514
GeneDx 1 3 39 55 43 141
Ambry Genetics 0 1 29 26 8 64
Illumina Laboratory Services, Illumina 0 0 47 5 8 60
PreventionGenetics, part of Exact Sciences 0 0 0 9 7 16
Eurofins Ntd Llc (ga) 0 0 12 0 2 14
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 6 4 12
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 8 6 12
Fulgent Genetics, Fulgent Genetics 0 0 3 5 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 4 0 1 7
Genetic Services Laboratory, University of Chicago 0 0 0 6 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 4 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 3 6
OMIM 5 0 0 0 0 5
Athena Diagnostics Inc 0 0 0 1 4 5
Revvity Omics, Revvity 1 0 3 0 0 4
CeGaT Center for Human Genetics Tuebingen 0 0 0 3 0 3
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 2 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1

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