ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.6378C>T (p.Thr2126=)

gnomAD frequency: 0.00001  dbSNP: rs1161779692
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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 RCV002078833 SCV002428705 likely benign Early myoclonic encephalopathy 2021-11-02 criteria provided, single submitter clinical testing

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