ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1764C>A (p.Ala588=)

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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 RCV003592652 SCV004262701 likely benign Developmental and epileptic encephalopathy, 54 2024-01-22 criteria provided, single submitter clinical testing

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