ClinVar Miner

Submissions for variant NM_000494.4(COL17A1):c.1141+5G>A

gnomAD frequency: 0.00001  dbSNP: rs201940939
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493091 SCV000583188 likely pathogenic not provided 2022-04-02 criteria provided, single submitter clinical testing Published functional studies demonstrate abnormal splicing with several abnormal transcripts produced and a reduction of the wild-type transcript (Cifuentes et al., 2013); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 23834121, Uyanik2019[Abstract], 29627521)

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