ClinVar Miner

Submissions for variant NM_001256850.1(TTN):c.156C>T (p.Pro52=) (rs72647842)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000152539 SCV000616003 benign not specified 2017-02-07 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769150 SCV000900524 likely benign Cardiomyopathy 2017-08-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726251 SCV000701317 uncertain significance not provided 2016-10-10 criteria provided, single submitter clinical testing
GeneDx RCV000152539 SCV000236716 benign not specified 2014-07-02 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 RCV000465538 SCV000555258 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-07-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152539 SCV000201741 likely benign not specified 2017-07-10 criteria provided, single submitter clinical testing p.Pro52Pro in exon 3 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. This variant has been identified in 18/24036 of African chromosomes by the Genome Aggregation Database (gnomAD,; dbSNP rs72647842).

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