ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.61099C>T (p.Arg20367Trp)

gnomAD frequency: 0.00006  dbSNP: rs727504479
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155608 SCV000205316 uncertain significance not specified 2015-07-15 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV001719976 SCV000237373 likely benign not provided 2018-11-06 criteria provided, single submitter clinical testing
Invitae RCV000536562 SCV000643466 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453515 SCV002617200 likely benign Cardiovascular phenotype 2019-11-08 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 RCV001719976 SCV003826542 uncertain significance not provided 2023-10-26 criteria provided, single submitter clinical testing

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