ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1494+21del

dbSNP: rs750413170
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001667088 SCV001887780 benign not provided 2019-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003591885 SCV004249486 benign Developmental and epileptic encephalopathy, 54 2023-10-05 criteria provided, single submitter clinical testing

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