ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55659G>A (p.Val18553=) (rs368450420)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247264 SCV000318801 likely benign Cardiovascular phenotype 2013-06-11 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.
GeneDx RCV000421641 SCV000515145 benign not specified 2015-06-11 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 RCV001082213 SCV000555016 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000731256 SCV000859051 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000421641 SCV001572365 likely benign not specified 2021-04-15 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000421641 SCV001917257 benign not specified no assertion criteria provided clinical testing

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