ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3902G>A (p.Gly1301Asp)

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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 RCV004598396 SCV005091182 likely pathogenic Autosomal dominant Alport syndrome 2024-03-13 criteria provided, single submitter clinical testing ACMG Criteria: PP3_STR,PM1_SUP,PM2_SUP
Fulgent Genetics, Fulgent Genetics RCV005023597 SCV005656109 likely pathogenic Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-01-19 criteria provided, single submitter clinical testing

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