ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3131C>G (p.Pro1044Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005020853 SCV005651362 uncertain significance Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-05-31 criteria provided, single submitter clinical testing

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