ClinVar Miner

Submissions for variant NM_000116.5(TAZ):c.383T>C (p.Phe128Ser) (rs146934311)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245160 SCV000318443 benign Cardiovascular phenotype 2015-11-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224909 SCV000280600 benign not provided 2015-06-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035092 SCV000230845 benign not specified 2015-04-09 criteria provided, single submitter clinical testing
GeneDx RCV000035092 SCV000171951 benign not specified 2011-12-02 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 RCV000339020 SCV000482025 likely benign Endocardial fibroelastosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000233298 SCV000482026 likely benign 3-Methylglutaconic aciduria type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289824 SCV000482027 likely benign Dilated cardiomyopathy 3B 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347300 SCV000482028 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233298 SCV000283512 benign 3-Methylglutaconic aciduria type 2 2018-01-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035092 SCV000058732 benign not specified 2012-04-12 criteria provided, single submitter clinical testing Phe128Ser in exon 5 of TAZ: This variant is not expected to have clinical signif icance because it has been identified in 5.1% (165/3215) of African American chr omosomes from a broad population by the NHLBI Exome Sequencing Project (http://e vs.gs.washington.edu/EVS; dbSNP rs146934311).

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