ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.803+11C>T

gnomAD frequency: 0.01825  dbSNP: rs74152197
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001649631 SCV001865081 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002539582 SCV002423130 benign Developmental and epileptic encephalopathy, 54 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001649631 SCV005283097 benign not provided criteria provided, single submitter not provided

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