ClinVar Miner

Submissions for variant NM_000371.3(TTR):c.354C>T (p.Asn118=) (rs11541797)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242314 SCV000320423 likely benign Cardiovascular phenotype 2015-11-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000152542 SCV000616216 benign not specified 2017-06-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770557 SCV000902005 uncertain significance Cardiomyopathy 2016-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000152542 SCV000515196 likely benign not specified 2017-08-02 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.
Invitae RCV000460535 SCV000554846 likely benign Amyloidogenic transthyretin amyloidosis 2017-05-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152542 SCV000201746 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Asn118Asn in exon 4 of TTR: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/3738 African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS).

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