ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.156+15T>C

gnomAD frequency: 0.09264  dbSNP: rs56796001
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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 RCV001807602 SCV002055243 benign Developmental and epileptic encephalopathy, 30 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001807602 SCV002405981 benign Developmental and epileptic encephalopathy, 30 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714348 SCV005278805 benign not provided criteria provided, single submitter not provided

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