ClinVar Miner

Variants in gene combination CLTC, LOC126862609

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Minimum submission review status: Collection method:
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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
4 6 44 49 1 103

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 3 3 39 47 1 93
Intellectual disability, autosomal dominant 56 0 3 3 1 0 7
Inborn genetic diseases 1 0 2 1 0 4
CLTC-related disorder 0 0 1 1 1 3
Developmental disorder 0 0 0 1 0 1
Intellectual disability 0 0 1 0 0 1
not specified 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 1 1 32 47 1 82
GeneDx 1 2 9 0 0 12
Ambry Genetics 1 0 2 1 0 4
PreventionGenetics, part of Exact Sciences 0 0 1 1 1 3
CeGaT Center for Human Genetics Tuebingen 1 0 2 0 0 3
Baylor Genetics 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 1
3billion 0 0 0 1 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 1

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