ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.755G>C (p.Gly252Ala)

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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 RCV003484553 SCV004229110 likely pathogenic Autosomal recessive Alport syndrome 2023-07-27 criteria provided, single submitter clinical testing

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