ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79514C>T (p.Thr26505Ile)

gnomAD frequency: 0.00003  dbSNP: rs886042786
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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) RCV000359667 SCV000336565 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764314 SCV000895333 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
GeneDx RCV000359667 SCV002578729 uncertain significance not provided 2022-04-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge

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