ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.2168-12C>G

gnomAD frequency: 0.00025  dbSNP: rs200427582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001567388 SCV001791060 likely benign not provided 2020-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002569038 SCV002413860 likely benign Developmental and epileptic encephalopathy, 54 2025-01-06 criteria provided, single submitter clinical testing

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