ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.4080G>A (p.Pro1360=) (rs2228556)

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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 RCV000710850 SCV000841156 benign not provided 2017-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000253144 SCV000730235 benign not specified 2017-05-09 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 RCV000329823 SCV000428076 benign Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000253144 SCV000711921 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Pro1360Pro in exon 42 of COL4A4: This variant is not expected to have clinical significance because it has been identified in 55.67% (9183/16494) of South Asi an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs2228556).
PreventionGenetics RCV000253144 SCV000302118 benign not specified criteria provided, single submitter clinical testing

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