ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) (rs370629962)

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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 RCV000242147 SCV000319985 uncertain significance Cardiovascular phenotype 2015-09-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172305 SCV000054981 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768983 SCV000900356 uncertain significance Cardiomyopathy 2016-07-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172305 SCV000701090 uncertain significance not provided 2016-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000595518 SCV000237327 likely benign not specified 2017-06-05 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 RCV000227585 SCV000286730 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2016-01-01 criteria provided, single submitter clinical testing

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