ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80462C>T (p.Pro26821Leu) (rs200489046)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552086 SCV000643731 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619182 SCV000737058 likely benign Cardiovascular phenotype 2019-05-31 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Other data supporting benign classification
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769933 SCV000901359 uncertain significance Cardiomyopathy 2016-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000828890 SCV000970593 likely benign not provided 2018-05-04 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.

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