ClinVar Miner

Submissions for variant NM_006160.4(NEUROD2):c.488T>C (p.Leu163Pro)

dbSNP: rs2144812147
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001788992 SCV002030287 uncertain significance Developmental and epileptic encephalopathy, 72 2019-03-30 criteria provided, single submitter clinical testing

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