ClinVar Miner

Variants in gene CTSD

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
8 6 194 133 49 337

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Neuronal ceroid lipofuscinosis 0 1 106 64 10 181
not provided 1 3 47 35 11 94
not specified 0 0 3 57 39 91
Neuronal ceroid lipofuscinosis 10 7 1 58 11 14 82
Seizures 0 0 11 10 8 29
Exaggerated startle response; Severe microlissencephaly 0 1 0 0 0 1
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 0 0 1 0 0 1
See cases 0 0 1 0 0 1
Seizures; Intellectual disability 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 1 106 73 10 190
GeneDx 1 3 34 62 42 142
Illumina Clinical Services Laboratory,Illumina 0 0 57 7 9 73
Ambry Genetics 0 0 11 10 8 29
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 16 0 3 19
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 6 5 12
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 7 4 11
Athena Diagnostics Inc 0 0 0 3 6 9
Genetic Services Laboratory, University of Chicago 0 0 0 8 0 8
PreventionGenetics, PreventionGenetics 0 0 0 0 8 8
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 5 6
OMIM 5 0 0 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 4 5
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
Baylor Genetics 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Developmental Genetics Unit,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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