ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.4599T>G (p.Tyr1533Ter) (rs369922627)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673399 SCV000798597 likely pathogenic Alport syndrome, autosomal recessive 2018-03-15 criteria provided, single submitter clinical testing
Renal Department,Renmin Hospital of Wuhan University RCV000850092 SCV000992256 pathogenic Alport syndrome 3, autosomal dominant 2018-12-01 no assertion criteria provided research

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