ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.83133G>A (p.Lys27711=)

gnomAD frequency: 0.00026  dbSNP: rs369223412
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125915 SCV000169390 benign not specified 2013-08-12 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 RCV001087514 SCV000643769 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714101 SCV000844772 benign not provided 2018-05-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000714101 SCV000855072 uncertain significance not provided 2017-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345432 SCV002651378 likely benign Cardiovascular phenotype 2019-09-30 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 RCV003486655 SCV004240132 likely benign Cardiomyopathy 2022-10-11 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000714101 SCV001744680 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000125915 SCV001925894 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000125915 SCV001926535 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000125915 SCV001956141 benign not specified no assertion criteria provided clinical testing

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