ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.962G>C (p.Gly321Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004776352 SCV005387671 likely pathogenic Autosomal dominant Alport syndrome 2024-09-10 criteria provided, single submitter clinical testing ACMG Criteria: PM1_STR,PP3_MOD,PM2_SUP,PP4
Institute of Human Genetics, University of Leipzig Medical Center RCV004776352 SCV005397113 likely pathogenic Autosomal dominant Alport syndrome 2024-10-30 criteria provided, single submitter clinical testing Criteria applied: PM1_STR,PM2,PP3

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