ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg)

gnomAD frequency: 0.00010  dbSNP: rs371512914
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234407 SCV000286529 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2015-11-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000300616 SCV000334609 uncertain significance not provided 2015-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000300616 SCV001817803 likely benign not provided 2019-03-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29253866)
Revvity Omics, Revvity RCV000300616 SCV003826665 uncertain significance not provided 2022-10-10 criteria provided, single submitter clinical testing
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen RCV000491329 SCV000298102 uncertain significance Dilated cardiomyopathy 1S 2016-05-01 no assertion criteria provided clinical testing

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