ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13701T>G (p.Asp4567Glu) (rs200422152)

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Total submissions: 3
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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 RCV000172416 SCV000051209 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172416 SCV000726512 likely benign not provided 2019-07-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362)
Invitae RCV000643203 SCV000764890 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-15 criteria provided, single submitter clinical testing

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