ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1041G>A (p.Arg347=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002647994 SCV003522459 likely benign Developmental and epileptic encephalopathy, 54 2024-02-24 criteria provided, single submitter clinical testing

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