ClinVar Miner

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

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Total submissions: 10
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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 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 Primary dilated cardiomyopathy 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000385200 SCV000482043 benign Endocardial fibroelastosis 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000288304 SCV000482044 likely benign 3-Methylglutaconic aciduria type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000288304 SCV000554320 benign 3-Methylglutaconic aciduria type 2 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000857893 SCV001150540 likely benign not provided 2018-12-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000035103 SCV001363414 likely benign not specified 2019-07-05 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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