ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.1452G>A (p.Gly484=) (rs34019152)

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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 RCV000576304 SCV000677172 benign Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive 2017-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000247022 SCV000717798 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 RCV000375439 SCV000428163 likely benign Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000247022 SCV000711878 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Gly484Gly in exon 23 of COL4A3: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 17.66% (2037/11532 ) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs34019152).
PreventionGenetics RCV000247022 SCV000302062 benign not specified criteria provided, single submitter clinical testing

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