ClinVar Miner

Submissions for variant NM_024063.3(AFG2B):c.190C>T (p.Arg64Trp)

gnomAD frequency: 0.00001  dbSNP: rs1212383243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003442898 SCV001906474 likely pathogenic not provided 2021-08-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
OMIM RCV001779314 SCV002016206 pathogenic Neurodevelopmental disorder with hearing loss and spasticity 2023-04-19 no assertion criteria provided literature only

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