ClinVar Miner

Submissions for variant NM_022080.3(NAPB):c.421-1G>A

dbSNP: rs1983849974
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University RCV001257153 SCV001432475 uncertain significance Developmental and epileptic encephalopathy, 1 no assertion criteria provided clinical testing
OMIM RCV002283535 SCV002573392 pathogenic Developmental and epileptic encephalopathy-107 2022-09-13 no assertion criteria provided literature only

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