ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1744+10G>A

gnomAD frequency: 0.00071  dbSNP: rs376512810
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 RCV001086018 SCV000775069 benign Developmental and epileptic encephalopathy, 30 2024-01-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000653193 SCV001145630 benign not provided 2018-09-14 criteria provided, single submitter clinical testing

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