ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.647G>T (p.Gly216Val)

dbSNP: rs2069899081
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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 RCV001248776 SCV001422285 likely pathogenic Benign familial hematuria 2020-02-19 criteria provided, single submitter clinical testing

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