ClinVar Miner

Submissions for variant NM_001385012.1(NBEA):c.8467G>A (p.Gly2823Ser)

dbSNP: rs2550044213
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283828 SCV002572944 uncertain significance Neurodevelopmental disorder with or without early-onset generalized epilepsy 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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