ClinVar Miner

Submissions for variant NM_000116.5(TAZ):c.873G>A (p.Gly291=) (rs35902788)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035103 SCV000058743 benign not specified 2012-03-01 criteria provided, single submitter clinical testing Gly291Gly in exon 11 of TAZ: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and has been identified in 0.6% (33/5545) of European American chromosomes in a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs359027 88).
Ambry Genetics RCV000251950 SCV000318619 likely benign Cardiovascular phenotype 2016-03-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV000266172 SCV000482041 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328398 SCV000482042 likely benign Dilated cardiomyopathy 3B 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385200 SCV000482043 likely benign Endocardial fibroelastosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288304 SCV000482044 likely benign 3-Methylglutaconic aciduria type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000857893 SCV000554320 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000288304 SCV000734770 likely benign 3-Methylglutaconic aciduria type 2 no assertion criteria provided clinical testing

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