ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66051G>A (p.Val22017=)

gnomAD frequency: 0.00011  dbSNP: rs587780981
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125859 SCV000169331 benign not specified 2014-03-10 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 RCV001087910 SCV000286786 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726514 SCV000345175 uncertain significance not provided 2016-09-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000726514 SCV001146464 benign not provided 2018-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362759 SCV002623890 likely benign Cardiovascular phenotype 2019-07-18 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 RCV000726514 SCV003819858 uncertain significance not provided 2023-12-26 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149860 SCV003837983 likely benign Cardiomyopathy 2022-11-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000726514 SCV001741172 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000125859 SCV001921466 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000726514 SCV001973528 likely benign not provided no assertion criteria provided clinical testing

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