ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73224G>A (p.Gly24408=) (rs371034493)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243926 SCV000318683 likely benign Cardiovascular phenotype 2013-05-26 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 RCV000313398 SCV000335960 uncertain significance not provided 2015-10-06 criteria provided, single submitter clinical testing
Invitae RCV001414327 SCV001616458 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-07-05 criteria provided, single submitter clinical testing

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