ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81711A>G (p.Glu27237=)

dbSNP: rs1553576452
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597961 SCV000705784 uncertain significance not provided 2017-01-24 criteria provided, single submitter clinical testing
Invitae RCV002062061 SCV002489442 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-12-09 criteria provided, single submitter clinical testing

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