ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.2276C>T (p.Pro759Leu) (rs36121515)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000250969 SCV000717983 benign not specified 2017-10-09 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 RCV000295950 SCV000428104 likely benign Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000250969 SCV000967073 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Pro759Leu in exon 28 of COL4A4: This variant is not expected to have clinical significance because it has been identified in 8.87% (867/9776) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs36121515).
PreventionGenetics RCV000250969 SCV000302100 benign not specified criteria provided, single submitter clinical testing

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