ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7020C>T (p.Ile2340=)

dbSNP: rs587780986
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126025 SCV000169515 benign not specified 2014-06-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000724995 SCV000333055 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000724995 SCV001472200 likely benign not provided 2019-09-20 criteria provided, single submitter clinical testing
Invitae RCV001465849 SCV001669846 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371964 SCV002667687 likely benign Cardiovascular phenotype 2021-09-17 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.

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