ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1457C>T (p.Ala486Val)

gnomAD frequency: 0.00010  dbSNP: rs369897512
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000696137 SCV000824685 likely benign Developmental and epileptic encephalopathy, 30 2025-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000696137 SCV000895271 uncertain significance Developmental and epileptic encephalopathy, 30 2018-10-31 criteria provided, single submitter clinical testing

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