ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43255G>A (p.Val14419Ile)

dbSNP: rs529018517
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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 RCV000617443 SCV000736745 benign Cardiovascular phenotype 2020-07-02 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV001473643 SCV001677797 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000871034 SCV001714049 uncertain significance not provided 2020-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000871034 SCV001771201 likely benign not provided 2018-08-29 criteria provided, single submitter clinical testing

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