ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.4041C>A (p.Asp1347Glu) (rs73996414)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576378 SCV000677175 benign Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive 2017-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000600297 SCV000717866 benign not specified 2017-08-22 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 RCV000345887 SCV000428188 likely benign Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000600297 SCV000711839 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Asp1347Glu in exon 46 of COL4A3: This variant is not expected to have clinical significance because it has been identified in 8.37% (820/9794) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs73996414).

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