ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.2256A>G (p.Pro752=)

dbSNP: rs1558185970
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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 RCV003089008 SCV002486712 likely benign Developmental and epileptic encephalopathy, 54 2021-11-08 criteria provided, single submitter clinical testing

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