ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr)

gnomAD frequency: 0.00001  dbSNP: rs368263400
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643444 SCV000765131 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343297 SCV002647207 likely benign Cardiovascular phenotype 2020-03-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics RCV002483848 SCV002792649 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 2021-09-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002509489 SCV002819822 uncertain significance not specified 2022-12-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003140004 SCV003820228 uncertain significance not provided 2020-03-26 criteria provided, single submitter clinical testing

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