ClinVar Miner

Submissions for variant NM_000495.5(COL4A5):c.1147G>C (p.Gly383Arg) (rs1569492161)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine Center, Medical University of Sofia RCV000785979 SCV000920797 pathogenic Alport syndrome 2019-06-11 criteria provided, single submitter clinical testing Identified in all affected individuals, both male and female, in a large pedigree.

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