ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1799G>A (p.Arg600Gln) (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
Invitae RCV001034356 SCV001197697 likely benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-03-25 criteria provided, single submitter clinical testing

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