ClinVar Miner

Variants in gene CTSD

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 total
8 5 128 107 45 244

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 3 57 39 91
Neuronal ceroid lipofuscinosis 0 0 49 32 9 90
not provided 1 3 46 22 10 80
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 0 0 35 9 0 44
Seizures 0 0 11 10 8 29
Ceroid lipofuscinosis neuronal 10 7 1 2 7 9 21
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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 1 3 34 62 42 142
Invitae 0 0 49 32 9 90
Illumina Clinical Services Laboratory,Illumina 0 0 35 9 0 44
Ambry Genetics 0 0 11 10 8 29
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 16 0 3 19
Mayo Clinic Genetic Testing 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 5 8
Genetic Services Laboratory, University of Chicago 0 0 0 8 0 8
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
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1

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