ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1016G>C (p.Gly339Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV003992012 SCV004811900 likely pathogenic Autosomal dominant Alport syndrome 2021-09-16 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP, PP3, PP4, PM1_STR

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