ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg) (rs200672668)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410611 SCV000487304 likely pathogenic Alport syndrome, autosomal recessive 2016-11-10 criteria provided, single submitter clinical testing
GeneDx RCV000489873 SCV000577626 likely pathogenic not provided 2021-11-01 criteria provided, single submitter clinical testing Affects a glycine residue in a Gly-X-Y motif in the triple helical region of the COL4A3 gene; 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: 11134255, 24633401, 24052634, 29854973)
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV001580284 SCV001809953 likely pathogenic Microscopic hematuria 2020-11-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000489873 SCV001927483 pathogenic not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000489873 SCV001959629 pathogenic not provided no assertion criteria provided clinical testing

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