ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.1634G>C (p.Gly545Ala) (rs1800516)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000253944 SCV000612961 benign not specified 2017-07-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000253944 SCV000859387 benign not specified 2018-02-13 criteria provided, single submitter clinical testing
GeneDx RCV000253944 SCV000713900 benign not specified 2017-10-05 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 RCV000263301 SCV000428115 likely benign Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000253944 SCV000711887 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Gly545Ala in exon 23 of COL4A4: This variant is not expected to have clinical significance because it has been identified in 3.93% (2622/66738) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1800516).
PreventionGenetics RCV000253944 SCV000302095 benign not specified criteria provided, single submitter clinical testing

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