ClinVar Miner

Variants in gene SIK1

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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 not provided total
5 0 144 129 71 1 325

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic uncertain significance likely benign benign not provided total
Epileptic encephalopathy, early infantile, 30 5 128 78 51 0 258
not provided 0 8 32 28 0 66
Seizures 0 10 32 23 0 65
Cafe-au-lait spot; Intellectual disability, mild; Freckling; Hemiplegia 0 1 0 0 0 1
Global developmental delay; Developmental regression 0 1 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 1
Normal pregnancy 0 0 0 0 1 1
See cases 0 0 1 0 0 1
not specified 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic uncertain significance likely benign benign not provided total
Invitae 0 125 104 50 0 279
Ambry Genetics 0 11 31 23 0 65
Athena Diagnostics Inc 0 1 0 14 0 15
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 14 0 14
CeGaT Praxis fuer Humangenetik Tuebingen 0 5 3 0 0 8
OMIM 5 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 0 4 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 1 0 3
Mendelics 0 0 1 1 0 2
GeneDx 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 0 0 1
ISCA site 6 0 0 1 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 1

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