ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91311A>G (p.Glu30437=)

gnomAD frequency: 0.00045  dbSNP: rs374094732
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725534 SCV000337585 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086719 SCV000555116 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000725534 SCV000727189 likely benign not provided 2019-08-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725534 SCV002063937 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
Ambry Genetics RCV002365297 SCV002658560 likely benign Cardiovascular phenotype 2020-11-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV000725534 SCV003823617 likely benign not provided 2023-08-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000725534 SCV001742949 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000363959 SCV001917853 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000725534 SCV001957144 likely benign not provided no assertion criteria provided clinical testing

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