ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn) (rs189202799)

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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 RCV000619720 SCV000736509 likely benign Cardiovascular phenotype 2016-01-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Athena Diagnostics Inc RCV000714109 SCV000844782 benign not provided 2018-07-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152196 SCV000336611 likely benign not specified 2016-08-19 criteria provided, single submitter clinical testing
GeneDx RCV000152196 SCV000237695 likely benign not specified 2017-10-10 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 RCV000465389 SCV000555384 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152196 SCV000200947 likely benign not specified 2015-10-31 criteria provided, single submitter clinical testing Asp26865Asn in exon 279 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (45/9664) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs189202799).

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