ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.2538A>G (p.Gly846=)

gnomAD frequency: 0.00048  dbSNP: rs200418707
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635187 SCV000756565 likely benign Early myoclonic encephalopathy 2025-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004808813 SCV005434387 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing JMJD1C: BP4, BS1

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