ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.932+5G>A

dbSNP: rs797045474
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192555 SCV000247037 uncertain significance not specified 2014-12-02 criteria provided, single submitter clinical testing
GeneDx RCV002243875 SCV002513596 likely pathogenic not provided 2022-02-08 criteria provided, single submitter clinical testing Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and splice predictors support a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32978031, 27241786)

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