ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1087G>T (p.Gly363Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003314523 SCV004013997 likely pathogenic Autosomal dominant Alport syndrome 2022-12-19 criteria provided, single submitter clinical testing PM1, PM2, PM5, PP4, PP3

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