ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14004C>T (p.Thr4668=) (rs201200682)

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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 RCV000041113 SCV000064804 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Thr4430Thr in exon 45B of TTN: 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 0.3% (8/3128) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Thr4430Thr in exon 45B of TTN (all ele frequency = 0.3%, 8/3128) **
GeneDx RCV000041113 SCV000236731 benign not specified 2014-06-26 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 RCV000205782 SCV000262240 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041113 SCV000337921 likely benign not specified 2016-06-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617981 SCV000737089 likely benign Cardiovascular phenotype 2016-06-01 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 RCV000769090 SCV000900463 benign Cardiomyopathy 2016-09-08 criteria provided, single submitter clinical testing

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