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 0 191 184 75 1 427

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic uncertain significance likely benign benign not provided total
Epileptic encephalopathy, early infantile, 30 5 174 147 55 0 375
not provided 0 11 33 28 0 70
Seizures 0 11 32 23 0 66
Inborn genetic diseases 0 2 0 0 0 2
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: 19
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Submitter pathogenic uncertain significance likely benign benign not provided total
Invitae 0 169 160 54 0 383
Ambry Genetics 0 12 31 23 0 66
Athena Diagnostics Inc 0 2 1 14 0 17
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 5 0 0 10
OMIM 5 0 0 0 0 5
Baylor Genetics 0 4 0 0 0 4
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
New York Genome Center 0 2 1 0 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
Quest Diagnostics Nichols Institute San Juan Capistrano 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
Department of Pathology and Laboratory Medicine,Sinai Health System 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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