ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.625-39A>G

gnomAD frequency: 0.32889  dbSNP: rs2006112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001807599 SCV002055240 benign Developmental and epileptic encephalopathy, 30 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004598150 SCV005091646 benign not specified 2024-07-31 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 47% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 44. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004714345 SCV005277129 benign not provided criteria provided, single submitter not provided

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