ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1246-36T>C

gnomAD frequency: 0.09992  dbSNP: rs2838302
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001807594 SCV002055234 benign Developmental and epileptic encephalopathy, 30 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713107 SCV005276834 benign not provided criteria provided, single submitter not provided

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