ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.235-2A>T

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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 RCV005024206 SCV005653717 likely pathogenic Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-03-14 criteria provided, single submitter clinical testing

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