ClinVar Miner

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

gnomAD frequency: 0.00005  dbSNP: 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 This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga) 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; 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

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