ClinVar Miner

Submissions for variant NM_004826.4(ECEL1):c.1507-9G>A

gnomAD frequency: 0.00002  dbSNP: rs797045548
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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 RCV000192697 SCV000247252 uncertain significance not specified 2014-10-27 criteria provided, single submitter clinical testing
GeneDx RCV003221845 SCV003918527 likely pathogenic not provided 2022-10-11 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33672664)

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