ClinVar Miner

Submissions for variant NM_024063.3(AFG2B):c.95G>A (p.Gly32Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004775412 SCV005384611 uncertain significance not provided 2024-01-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Undiagnosed Diseases Network, NIH RCV003493381 SCV004242191 uncertain significance Neurodevelopmental disorder with hearing loss and spasticity 2022-12-21 no assertion criteria provided clinical testing

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