ClinVar Miner

Submissions for variant NM_001256850.1(TTN):c.49284A>G (p.Pro16428=) (rs372686070)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619968 SCV000736632 likely benign Cardiovascular phenotype 2016-07-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725193 SCV000334826 uncertain significance not provided 2015-09-15 criteria provided, single submitter clinical testing
GeneDx RCV000152309 SCV000730385 benign not specified 2017-05-01 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152309 SCV000201184 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Pro15501Pro in Exon 230 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 1/3094 African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;).

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