ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1751G>A (p.Gly584Glu)

dbSNP: rs2150506036
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV002274281 SCV002558838 likely pathogenic Benign familial hematuria 2022-06-30 criteria provided, single submitter clinical testing

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