ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2135G>T (p.Gly712Val)

dbSNP: rs2071832975
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001726707 SCV001961029 likely pathogenic Autosomal dominant Alport syndrome 2021-03-25 criteria provided, single submitter clinical testing

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