ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1413G>A (p.Arg471=)

dbSNP: rs2146470778
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001429351 SCV001632065 likely benign Developmental and epileptic encephalopathy, 30 2019-08-27 criteria provided, single submitter clinical testing

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