ClinVar Miner

Submissions for variant NM_000116.5(TAZ):c.504G>A (p.Lys168=) (rs1057515818)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000402701 SCV000482029 uncertain significance Endocardial fibroelastosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307696 SCV000482030 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350806 SCV000482031 uncertain significance Dilated cardiomyopathy 3B 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395947 SCV000482032 uncertain significance 3-Methylglutaconic aciduria type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000395947 SCV000758750 likely benign 3-Methylglutaconic aciduria type 2 2017-10-27 criteria provided, single submitter clinical testing
GeneDx RCV000841319 SCV000983280 likely benign not provided 2018-04-12 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.

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