ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.3490C>T (p.Arg1164Ter)

dbSNP: rs753100456
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Wuerzburg RCV001328492 SCV001519647 likely pathogenic Neonatal seizure no assertion criteria provided clinical testing

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