ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.2349T>G (p.Thr783=)

gnomAD frequency: 0.00001  dbSNP: rs755118052
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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 RCV001514796 SCV001722727 benign Early myoclonic encephalopathy 2024-10-17 criteria provided, single submitter clinical testing

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