ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) (rs104886192)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000885639 SCV001029101 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV000021433 SCV001245123 pathogenic Alport syndrome 1, X-linked recessive 2020-03-11 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021433 SCV000042099 uncertain significance Alport syndrome 1, X-linked recessive 2018-04-13 no assertion criteria provided literature only

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