ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.2384-5T>C (rs3769641)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710839 SCV000841144 benign not provided 2017-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000242935 SCV000715557 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000375100 SCV000428100 likely benign Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000242935 SCV000711868 benign not specified 2016-03-21 criteria provided, single submitter clinical testing c.2384-5T>C in intron 28 of COL4A4: This variant is not expected to have clinica l significance because a T>C change at this position does not diverge from the s plice consensus sequence and is therefore unlikely to impact splicing. It has be en identified in 16.50% (1412/8558) of East Asian chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3769641).
PreventionGenetics RCV000242935 SCV000302101 benign not specified criteria provided, single submitter clinical testing

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