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 51 53 49 1 145

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 36 23 28 0 92
Seizures 0 11 32 21 0 64
not provided 0 4 2 26 0 31
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: 12
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Submitter pathogenic uncertain significance likely benign benign not provided total
Invitae 0 36 23 28 0 87
Ambry Genetics 0 12 32 21 0 65
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 14 0 14
Athena Diagnostics Inc 0 0 0 12 0 12
OMIM 5 0 0 0 0 5
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 0 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

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