ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu)

dbSNP: rs1114167371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV000490752 SCV001810357 likely pathogenic Autosomal recessive Alport syndrome 2021-07-22 criteria provided, single submitter clinical testing
Institute of Human Genetics, Cologne University RCV000490752 SCV000574518 pathogenic Autosomal recessive Alport syndrome no assertion criteria provided clinical testing

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