ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49000G>A (p.Val16334Met)

gnomAD frequency: 0.00008  dbSNP: rs541384076
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000356393 SCV000332881 uncertain significance not provided 2015-07-23 criteria provided, single submitter clinical testing
Invitae RCV000643757 SCV000765444 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-22 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293196 SCV001434194 uncertain significance Hypertrophic cardiomyopathy criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002487189 SCV002792322 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 2022-02-01 criteria provided, single submitter clinical testing

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