ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6039T>G (p.Ile2013Met)

gnomAD frequency: 0.00001  dbSNP: rs727504208
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000154096 SCV000203752 uncertain significance not provided 2014-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000532952 SCV000643460 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498734 SCV002776701 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2022-01-08 criteria provided, single submitter clinical testing

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