ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) (rs11558747)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243351 SCV000317458 benign Cardiovascular phenotype 2015-03-17 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
GeneDx RCV000036337 SCV000169033 benign not specified 2011-06-27 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 RCV000338013 SCV000393209 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399052 SCV000393210 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000399052 SCV000558813 benign Hypertrophic cardiomyopathy 2017-01-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036337 SCV000059989 benign not specified 2016-05-10 criteria provided, single submitter clinical testing p.Tyr162Tyr in exon 4 of TPM1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 8% (5101/66566) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs11558747).
Leiden Muscular Dystrophy (TPM1) RCV000024585 SCV000045894 not provided not provided 2012-04-15 no assertion provided curation
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000024585 SCV000987487 benign not provided criteria provided, single submitter clinical testing
PreventionGenetics RCV000036337 SCV000305849 benign not specified criteria provided, single submitter clinical testing

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