ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.317G>T (p.Gly106Val)

dbSNP: rs1043352257
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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 RCV004556956 SCV005045606 likely pathogenic Autosomal dominant Alport syndrome 2024-01-19 criteria provided, single submitter clinical testing ACMG Criteria: PM1_STR,PM2_SUP,PP3,PP4

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