ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.370G>C (p.Gly124Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468830 SCV002764987 likely pathogenic Autosomal dominant Alport syndrome 2022-03-11 criteria provided, single submitter clinical testing

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