ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1016T>G (p.Leu339Arg)

dbSNP: rs1831789627
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001194603 SCV001364254 likely pathogenic Developmental and epileptic encephalopathy, 14 2020-02-19 no assertion criteria provided clinical testing

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