ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.2227G>A (p.Ala743Thr)

gnomAD frequency: 0.00121 dbSNP: rs200534160

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000913745	SCV001058901	benign	Developmental and epileptic encephalopathy, 30	2023-10-22	criteria provided, single submitter	clinical testing

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