ClinVar Miner

Submissions for variant NM_001112741.1(KCNC1):c.677A>T (p.Asn226Ile) (rs73424032)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700900 SCV000829677 likely benign Epilepsy, progressive myoclonic 7 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717356 SCV000848206 likely benign Seizures 2016-11-04 criteria provided, single submitter clinical testing Insufficient evidence

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