ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1462+11C>T

gnomAD frequency: 0.00041  dbSNP: rs373251983
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 RCV002082602 SCV002322674 benign Developmental and epileptic encephalopathy, 30 2024-01-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713130 SCV005275141 benign not provided criteria provided, single submitter not provided

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