ClinVar Miner

Submissions for variant NM_001385012.1(NBEA):c.6829C>T (p.Arg2277Ter)

dbSNP: rs2079516243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003322876 SCV004028328 pathogenic not provided 2023-02-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 30525188, 28714951, 27824329, 30269351, 28191890, 25363768, 31785789)
OMIM RCV001290111 SCV001478252 pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy 2021-01-26 no assertion criteria provided literature only

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