ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.2454T>G (p.Ala818=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005066308 SCV005696197 likely benign Early myoclonic encephalopathy 2024-02-12 criteria provided, single submitter clinical testing

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