ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67809G>A (p.Ala22603=) (rs548223512)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250526 SCV000320459 likely benign Cardiovascular phenotype 2015-11-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769971 SCV000901397 uncertain significance Cardiomyopathy 2015-12-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000604421 SCV000855240 benign not specified 2017-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000604421 SCV000714018 likely benign not specified 2018-01-26 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 RCV000230848 SCV000286794 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-01-31 criteria provided, single submitter clinical testing

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