ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.3473_3478del (p.Gly1158_Leu1159del)

dbSNP: rs139722368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635178 SCV000756556 benign Early myoclonic encephalopathy 2025-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980229 SCV004787290 benign JMJD1C-related disorder 2019-03-21 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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