ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80661C>T (p.Asn26887=) (rs201069672)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040661 SCV000064352 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Asn24319Asn in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.3% (8/3004) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS). Asn24319Asn in exon 275 of TTN (a llele frequency = 0.3%, 8/3004) **
GeneDx RCV000040661 SCV000169378 benign not specified 2014-04-03 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040661 SCV000228532 likely benign not specified 2014-10-23 criteria provided, single submitter clinical testing
Invitae RCV000473775 SCV000555093 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620038 SCV000737339 likely benign Cardiovascular phenotype 2017-12-12 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769932 SCV000901358 likely benign Cardiomyopathy 2016-06-15 criteria provided, single submitter clinical testing

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