ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81737T>C (p.Ile27246Thr) (rs367603381)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621288 SCV000737128 likely benign Cardiovascular phenotype 2020-05-20 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730566 SCV000858314 uncertain significance not provided 2017-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764311 SCV000895330 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing

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