ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1212C>T (p.Tyr404=) (rs139187345)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770165 SCV000901591 likely benign Cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000611474 SCV000726624 likely benign not specified 2018-01-19 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 RCV000472908 SCV000555637 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2016-08-15 criteria provided, single submitter clinical testing

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