ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102963C>T (p.Asn34321=) (rs528502993)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118802 SCV000153429 benign not specified 2014-02-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000253169 SCV000318396 likely benign Cardiovascular phenotype 2013-03-11 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726088 SCV000341855 uncertain significance not provided 2016-06-21 criteria provided, single submitter clinical testing
Invitae RCV000534275 SCV000642529 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-08-17 criteria provided, single submitter clinical testing
GeneDx RCV000726088 SCV001862701 likely benign not provided 2021-01-22 criteria provided, single submitter clinical testing

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