ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1623G>A (p.Glu541=)

gnomAD frequency: 0.00003  dbSNP: rs758644634
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001473764 SCV001677922 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2020-01-28 criteria provided, single submitter clinical testing

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