ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.3817+9G>C (rs13423714)

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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 RCV000710848 SCV000841153 benign not provided 2017-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000249465 SCV000716960 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 RCV000326292 SCV000428079 benign Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000249465 SCV000711922 benign not specified 2016-03-21 criteria provided, single submitter clinical testing c.3817+9G>C in intron 40 of COL4A4: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence an d has been identified in 57.91% (9317/16088) of South Asian chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs13423 714).
PreventionGenetics RCV000249465 SCV000302114 benign not specified criteria provided, single submitter clinical testing

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