ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.3362G>T (p.Ser1121Ile) (rs1202584286)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735392 SCV000854547 uncertain significance Sleep disturbance; Choreoathetosis; Chorea; Paroxysmal choreoathetosis; Paroxysmal dyskinesia criteria provided, single submitter clinical testing

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