ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.800T>C (p.Met267Thr) (rs1564354299)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680018 SCV000807457 uncertain significance Early infantile epileptic encephalopathy 14 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 1-month-old male with epilepsy, onset at 2 weeks
Ambry Genetics RCV001266677 SCV001444854 likely pathogenic Inborn genetic diseases 2018-09-18 criteria provided, single submitter clinical testing

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