ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.948T>C (p.Tyr316=) (rs34509421)

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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 RCV000576825 SCV000677186 benign Alport syndrome, autosomal recessive 2017-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000606743 SCV000717982 benign not specified 2017-12-18 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 RCV000333548 SCV000428119 likely benign Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000606743 SCV000711836 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Tyr316Tyr in exon 16 of COL4A4: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 12.23% (748/6116) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs34509421).

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