ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85248A>T (p.Thr28416=)

gnomAD frequency: 0.00079  dbSNP: rs187180708
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125920 SCV000169395 benign not specified 2014-05-09 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 RCV001079390 SCV000555003 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000125920 SCV000616158 benign not specified 2016-10-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725585 SCV000701032 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354317 SCV002648045 likely benign Cardiovascular phenotype 2018-10-23 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149861 SCV003838529 benign Cardiomyopathy 2021-09-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000125920 SCV004100185 likely benign not specified 2023-09-26 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000125920 SCV001917321 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000725585 SCV001964588 likely benign not provided no assertion criteria provided clinical testing

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