ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96015C>T (p.Pro32005=) (rs183620684)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082454 SCV000114483 uncertain significance not provided 2013-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000244743 SCV000319679 likely benign Cardiovascular phenotype 2015-06-02 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 RCV001079012 SCV000555497 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001420776 SCV001623129 likely benign not specified 2021-05-02 criteria provided, single submitter clinical testing
GeneDx RCV000082454 SCV001883105 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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