ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp) (rs760795817)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics, University of Parma RCV001089930 SCV001245131 likely pathogenic Alport syndrome, autosomal recessive 2020-03-11 criteria provided, single submitter clinical testing
Molecular Biology Laboratory, Fundació Puigvert RCV001089930 SCV001425035 likely pathogenic Alport syndrome, autosomal recessive 2020-02-01 criteria provided, single submitter research

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