ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.408C>T (p.Ala136=)

gnomAD frequency: 0.00003  dbSNP: rs150770510
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658925 SCV000780727 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing SIK1: BP4, BP7
Invitae RCV001493074 SCV001697696 likely benign Developmental and epileptic encephalopathy, 30 2022-08-10 criteria provided, single submitter clinical testing

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