ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79883G>A (p.Arg26628Gln)

dbSNP: rs201091376
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725251 SCV000335299 uncertain significance not provided 2015-09-10 criteria provided, single submitter clinical testing
GeneDx RCV000312083 SCV000730774 likely benign not specified 2017-06-20 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.
Invitae RCV001088389 SCV001002916 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338833 SCV002641246 likely benign Cardiovascular phenotype 2019-12-23 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.
Revvity Omics, Revvity Omics RCV000725251 SCV003820188 uncertain significance not provided 2019-06-28 criteria provided, single submitter clinical testing

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