ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2864G>A (p.Gly955Glu)

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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 RCV004555411 SCV005044384 likely pathogenic Autosomal dominant Alport syndrome 2021-11-15 criteria provided, single submitter clinical testing ACMG Criteria: PM1_STR, PM2_SUP, PM5_SUP, PP3, PP4 (ACMG Version 3)

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