ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met)

gnomAD frequency: 0.00001  dbSNP: rs540840413
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642856 SCV000764543 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732767 SCV000860753 uncertain significance not provided 2018-04-13 criteria provided, single submitter clinical testing
GeneDx RCV000732767 SCV001805441 likely benign not provided 2019-03-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31983221)
Revvity Omics, Revvity RCV000732767 SCV003826643 uncertain significance not provided 2022-04-19 criteria provided, single submitter clinical testing

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