ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.699C>T (p.Val233=)

gnomAD frequency: 0.00482  dbSNP: rs74138760
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553592 SCV000632330 benign Early myoclonic encephalopathy 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718712 SCV005315792 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003935417 SCV004748165 benign JMJD1C-related disorder 2019-10-11 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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