ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.2464C>T (p.Gln822Ter)

dbSNP: rs542905297
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001248820 SCV001364587 benign Myoclonic absence seizure criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568692 SCV002160295 likely benign Developmental and epileptic encephalopathy, 54 2022-07-19 criteria provided, single submitter clinical testing

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