ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43255G>A (p.Val14419Ile) (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 General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000871034 SCV001012629 likely benign not provided 2018-10-23 criteria provided, single submitter clinical testing
Invitae RCV001473643 SCV001677797 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-04-27 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

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