ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.1223G>A (p.Arg408His) (rs34505188)

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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 RCV000576551 SCV000677170 benign Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive 2017-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000249936 SCV000730392 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 RCV000267017 SCV000428158 likely benign Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000249936 SCV000711877 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Arg408His in exon 21 of COL4A3: This variant is not expected to have clinical significance because it has been identified in 17.54% (2026/11552) of Latino chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs34505188).
PreventionGenetics RCV000249936 SCV000302057 benign not specified criteria provided, single submitter clinical testing

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