ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.854C>T (p.Pro285Leu)

gnomAD frequency: 0.00006  dbSNP: rs567695572
Minimum review status: Collection method:
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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 RCV001034369 SCV001197710 benign Developmental and epileptic encephalopathy, 30 2023-08-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432993 SCV004153758 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing SIK1: BP4, BS1:Supporting

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