ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.7051C>T (p.Arg2351Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medicine Center,Zhengzhou University RCV001391139 SCV001593033 likely pathogenic Nephrotic syndrome criteria provided, single submitter research PM1:Located in well-established functional domain PP1:Cosegregation with disease in multiple affected family members PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product PP4:Patient's phenotype is highly specific for a disease PP5:Reputable source recently reports variant as pathogenic

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