ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys)

gnomAD frequency: 0.00009  dbSNP: rs374682077
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464465 SCV000543093 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732239 SCV000860162 uncertain significance not provided 2018-03-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000477786 SCV002785560 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 2021-07-05 criteria provided, single submitter clinical testing
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477786 SCV000536780 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 2016-02-10 no assertion criteria provided research

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