ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1459+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medicine Center,Zhengzhou University RCV001391124 SCV001593077 uncertain significance Alport syndrome, autosomal recessive criteria provided, single submitter research PM2:not found in gnomAD

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