ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.8788G>A (p.Val2930Ile) (rs56373393)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172458 SCV000055098 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769106 SCV000900479 uncertain significance Cardiomyopathy 2015-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000614292 SCV000715724 likely benign not specified 2017-02-09 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 RCV000228677 SCV000286888 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-09-27 criteria provided, single submitter clinical testing

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