ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[1] (p.11363VLPEEEE[3])

dbSNP: rs397517548
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000997503 SCV000567192 likely benign not provided 2021-06-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)
Invitae RCV000643893 SCV000765580 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000997503 SCV003823601 uncertain significance not provided 2019-09-09 criteria provided, single submitter clinical testing

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