ClinVar Miner

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

dbSNP: rs760795817
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Total submissions: 3
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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 Autosomal recessive Alport syndrome 2020-03-11 criteria provided, single submitter clinical testing
Molecular Biology Laboratory, Fundació Puigvert RCV001089930 SCV001425035 likely pathogenic Autosomal recessive Alport syndrome 2020-02-01 criteria provided, single submitter research
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468621 SCV002765005 likely pathogenic Benign familial hematuria 2022-03-09 criteria provided, single submitter clinical testing

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