ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.1576-15T>G (rs56243460)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000388102 SCV000428166 likely benign Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000242750 SCV000711850 benign not specified 2016-03-21 criteria provided, single submitter clinical testing c.1576-15T>G in intron 24 of COL4A3: This variant is not expected to have clinic al significance because it has been identified in 10.86% (1054/9706) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs56243460).
PreventionGenetics RCV000242750 SCV000302064 benign not specified criteria provided, single submitter clinical testing

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