ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) (rs368572799)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459308 SCV000542417 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-15 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714639 SCV000845353 uncertain significance Limb-girdle muscular dystrophy, type 2J 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714640 SCV000845354 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2018-08-07 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765573 SCV000896888 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Hereditary myopathy with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852527 SCV000995225 uncertain significance Cardiomyopathy 2019-06-03 criteria provided, single submitter clinical testing

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