ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1055A>G (p.Gln352Arg)

gnomAD frequency: 0.00005  dbSNP: rs767076281
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 RCV002132996 SCV002445559 likely benign Developmental and epileptic encephalopathy, 30 2024-10-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002132996 SCV003823213 uncertain significance Developmental and epileptic encephalopathy, 30 2020-10-15 criteria provided, single submitter clinical testing

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