ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4349_4366del (p.Ile1450_Pro1455del)

dbSNP: rs2149745228
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814715 SCV002061487 likely pathogenic Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome 2021-08-13 criteria provided, single submitter clinical testing PM1, PM2, PM4

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