ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.651AGGCGGCGG[1] (p.Gly221_Gly223del)

dbSNP: rs757585114
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002533750 SCV000835692 likely benign Developmental and epileptic encephalopathy, 54 2024-08-12 criteria provided, single submitter clinical testing
GeneDx RCV001558451 SCV001780397 likely benign not provided 2019-02-21 criteria provided, single submitter clinical testing

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