ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.1094G>A (p.Gly365Glu) (rs104886096)

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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 RCV000021243 SCV000262771 pathogenic Alport syndrome 1, X-linked recessive 2016-02-02 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021243 SCV000041909 pathogenic Alport syndrome 1, X-linked recessive 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.

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