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
32 15 254 361 46 645

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Neuronal ceroid lipofuscinosis 24 9 172 323 16 543
not provided 1 3 56 36 21 111
Neuronal ceroid lipofuscinosis 10 9 3 54 11 13 83
not specified 0 0 10 39 32 74
Inborn genetic diseases 0 1 36 27 8 72
CTSD-related disorder 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

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 24 8 172 323 16 543
GeneDx 1 3 44 55 43 146
Ambry Genetics 0 1 36 27 8 72
Illumina Laboratory Services, Illumina 0 0 47 5 8 60
Breakthrough Genomics, Breakthrough Genomics 0 0 1 8 14 23
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 3 6 4 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 8 1 1 12
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 8 6 12
Fulgent Genetics, Fulgent Genetics 0 2 3 5 0 10
Athena Diagnostics 0 0 1 1 5 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
Revvity Omics, Revvity 1 0 3 0 0 4
CeGaT Center for Human Genetics Tuebingen 0 0 0 3 1 4
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 1 1
New York Genome Center 0 0 1 0 0 1

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