ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77052C>T (p.Gly25684=)

gnomAD frequency: 0.00012  dbSNP: rs372543652
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723926 SCV000203687 uncertain significance not provided 2014-04-23 criteria provided, single submitter clinical testing
GeneDx RCV000154049 SCV000515723 benign not specified 2016-04-20 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 RCV001080765 SCV001004586 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154049 SCV001431906 likely benign not specified 2020-08-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798492 SCV002042987 likely benign Cardiomyopathy 2020-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336313 SCV002644023 likely benign Cardiovascular phenotype 2021-05-08 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 RCV000723926 SCV003827874 uncertain significance not provided 2019-05-17 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000723926 SCV001742180 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000154049 SCV001923280 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000723926 SCV001932076 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000723926 SCV001964348 likely benign not provided no assertion criteria provided clinical testing

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