ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.3807C>A (p.Asp1269Glu) (rs57611801)

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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 RCV000710819 SCV000841124 benign not provided 2017-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000253643 SCV000717192 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 RCV000385929 SCV000428183 likely benign Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000253643 SCV000711834 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Asp1269Glu in exon 43 of COL4A3: This variant is not expected to have clinical significance because it has been identified in 10.45% (691/6614) of Finnish chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs57611801).
PreventionGenetics RCV000253643 SCV000302075 benign not specified criteria provided, single submitter clinical testing

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