ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1421C>A (p.Thr474Asn)

dbSNP: rs771909772
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329907 SCV001521466 uncertain significance Developmental and epileptic encephalopathy, 54 2020-08-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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