ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80722A>C (p.Arg26908=)

gnomAD frequency: 0.00045  dbSNP: rs573877174
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125904 SCV000169379 benign not specified 2014-03-07 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 RCV001083608 SCV000555350 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000468046 SCV001152728 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000125904 SCV002104059 likely benign not specified 2022-02-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345431 SCV002646346 likely benign Cardiovascular phenotype 2020-02-24 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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