ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.1033-6A>G

dbSNP: rs869025330
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Diagnostic Laboratory, University of Szeged RCV000207933 SCV000262769 likely pathogenic X-linked Alport syndrome 2016-02-02 criteria provided, single submitter clinical testing
Precision Medicine Center, Zhengzhou University RCV000207933 SCV001593066 uncertain significance X-linked Alport syndrome criteria provided, single submitter research PM2:not found in gnomAD
GeneDx RCV001753626 SCV001985730 uncertain significance not provided 2020-12-28 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 26934356)

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