ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20395C>T (p.Arg6799Trp)

gnomAD frequency: 0.00001  dbSNP: rs751534449
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997534 SCV001153056 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293141 SCV001434131 uncertain significance Hypertrophic cardiomyopathy criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002489502 SCV002797587 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 2021-08-08 criteria provided, single submitter clinical testing
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino RCV002227943 SCV002507278 likely pathogenic Tip-toe gait no assertion criteria provided clinical testing

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