ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)

gnomAD frequency: 0.00004  dbSNP: rs375640847
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040833 SCV000064524 uncertain significance not specified 2015-02-20 criteria provided, single submitter clinical testing The p.Thr29479Met variant in TTN has been previously identified by our laborator y in 1 Caucasian child with DCM. This variant has also been identified in 4/6672 4 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs375640847). Computational prediction tools and conserv ation analysis do not provide strong support for or against an impact to the pro tein. In summary, the clinical significance of the p.Thr29479Met variant is unce rtain.
GeneDx RCV000725040 SCV000237819 likely benign not provided 2018-04-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725040 SCV000333462 uncertain significance not provided 2015-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643737 SCV000765424 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764305 SCV000895324 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 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725040 SCV001152636 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000725040 SCV004237077 uncertain significance not provided 2023-02-15 criteria provided, single submitter clinical testing

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