ClinVar Miner

Variants in gene KCTD3

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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
1 1 48 8 2 58

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Inborn genetic diseases 1 0 38 4 0 43
not provided 0 0 4 2 2 8
KCTD3-related disorder 0 0 1 3 0 4
Autism, susceptibility to, 15 0 0 2 0 0 2
Autism 0 0 1 0 0 1
Breast ductal adenocarcinoma 0 0 1 0 0 1
Congenital cerebellar hypoplasia; Seizure; Severe global developmental delay 0 1 0 0 0 1
not specified 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 1 0 38 4 0 43
PreventionGenetics, part of Exact Sciences 0 0 1 3 0 4
GeneDx 0 0 3 0 0 3
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 1 2 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 1 1

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