ClinVar Miner

Submissions for variant NM_000116.5(TAZ):c.675G>A (p.Pro225=) (rs201046790)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770597 SCV000902046 likely benign Cardiomyopathy 2015-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000606657 SCV000729064 likely benign not specified 2017-05-22 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 RCV000354693 SCV000482037 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266883 SCV000482038 likely benign Dilated cardiomyopathy 3B 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324398 SCV000482039 likely benign Endocardial fibroelastosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358603 SCV000482040 likely benign 3-Methylglutaconic aciduria type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000358603 SCV000635073 benign 3-Methylglutaconic aciduria type 2 2017-08-14 criteria provided, single submitter clinical testing

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