ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.2976A>G (p.Leu992=)

dbSNP: rs2133164464
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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 RCV002156122 SCV002464421 likely benign Early myoclonic encephalopathy 2021-02-04 criteria provided, single submitter clinical testing

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