ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.82G>T (p.Ala28Ser) (rs869025333)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Diagnostic Laboratory,University of Szeged RCV000207631 SCV000262773 pathogenic Alport syndrome 1, X-linked recessive 2016-02-02 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000207631 SCV000845100 pathogenic Alport syndrome 1, X-linked recessive 2018-04-13 no assertion criteria provided literature only

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