ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1934G>A (p.Arg645Gln)

gnomAD frequency: 0.00006  dbSNP: rs34614061
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 RCV000653192 SCV000775068 likely benign Developmental and epileptic encephalopathy, 30 2024-06-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000653192 SCV000895270 uncertain significance Developmental and epileptic encephalopathy, 30 2018-10-31 criteria provided, single submitter clinical testing

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