ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.749-49G>A

gnomAD frequency: 0.06248  dbSNP: rs117253106
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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 RCV001807596 SCV002055237 benign Developmental and epileptic encephalopathy, 30 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713109 SCV005273964 benign not provided criteria provided, single submitter not provided

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