ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.4410T>C (p.Ser1470=)

gnomAD frequency: 0.00011  dbSNP: rs118024996
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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 RCV000539668 SCV000632303 benign Early myoclonic encephalopathy 2024-05-06 criteria provided, single submitter clinical testing

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