ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1799G>A (p.Arg600Gln)

dbSNP: rs773621687
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Laboratory - MEYER, AOU Meyer RCV000417036 SCV000494565 uncertain significance Epileptic encephalopathy 2016-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001034356 SCV001197697 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-12-15 criteria provided, single submitter clinical testing

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