ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.4204C>T (p.Arg1402Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003129132 SCV003805327 likely pathogenic not provided 2022-10-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35543142)

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