ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3755C>G (p.Ala1252Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Nilou-Genome Lab RCV001559317 SCV001781520 uncertain significance Alport syndrome, autosomal recessive 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001559318 SCV001781521 uncertain significance Alport syndrome 3, autosomal dominant 2021-07-14 criteria provided, single submitter clinical testing

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