ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.3588A>T (p.Thr1196=)

gnomAD frequency: 0.00002  dbSNP: rs568159160
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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 RCV001519612 SCV001728502 benign Early myoclonic encephalopathy 2025-02-04 criteria provided, single submitter clinical testing

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