ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.453C>A (p.Ala151=) (rs1071646)

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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 RCV000036332 SCV000059984 benign not specified 2008-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000036332 SCV000169032 benign not specified 2012-09-25 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.
PreventionGenetics,PreventionGenetics RCV000036332 SCV000305848 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248314 SCV000317582 benign Cardiovascular phenotype 2015-03-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094282 SCV000393207 benign Familial hypertrophic cardiomyopathy 3 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 RCV000280647 SCV000393208 benign Dilated cardiomyopathy 1Y 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.
Invitae RCV000373427 SCV001000164 benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000989342 SCV001139633 benign Familial hypertrophic cardiomyopathy 1 2019-05-28 criteria provided, single submitter clinical testing
Color RCV001177325 SCV001341519 benign Cardiomyopathy 2018-04-03 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (TPM1) RCV000024584 SCV000045893 not provided not provided 2012-04-15 no assertion provided curation

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