ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2760C>T (p.His920=) (rs138788406)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251139 SCV000319068 likely benign Cardiovascular phenotype 2013-11-14 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.
Invitae RCV001081643 SCV000642907 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727430 SCV000708505 uncertain significance not provided 2017-05-12 criteria provided, single submitter clinical testing
GeneDx RCV000727430 SCV000722892 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing

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