ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.468G>A (p.Leu156=)

dbSNP: rs2081056659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331846 SCV001523984 uncertain significance Developmental and epileptic encephalopathy, 30 2020-07-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001331846 SCV001648600 likely benign Developmental and epileptic encephalopathy, 30 2020-03-24 criteria provided, single submitter clinical testing

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