ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.143_149del (p.Gly48fs)

dbSNP: rs2102990974
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatric Neurology and Endocrinology, Affiliated Hospital of Qingdao University RCV001374423 SCV001571382 pathogenic Developmental and epileptic encephalopathy, 54 2019-07-15 criteria provided, single submitter clinical testing

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