ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.3807A>G (p.Glu1269=)

gnomAD frequency: 0.00036  dbSNP: rs527526754
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 RCV000934138 SCV001079855 benign Early myoclonic encephalopathy 2024-11-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413735 SCV004125478 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing JMJD1C: BP4, BP7

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