ClinVar Miner

Submissions for variant NM_005033.3(EXOSC9):c.390G>T (p.Trp130Cys)

gnomAD frequency: 0.00001  dbSNP: rs775495786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV005635202 SCV006316320 uncertain significance Pontocerebellar hypoplasia, type 1D 2024-08-13 criteria provided, single submitter clinical testing
GeneDx RCV001769113 SCV002003196 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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