ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.61337G>A (p.Arg20446His)

gnomAD frequency: 0.00009  dbSNP: rs368278158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643406 SCV000765093 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798940 SCV002042578 uncertain significance Cardiomyopathy 2021-04-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV003140002 SCV003827258 uncertain significance not provided 2019-05-13 criteria provided, single submitter clinical testing

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