ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50076C>T (p.Asp16692=) (rs397517598)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040309 SCV000064000 likely benign not specified 2012-03-20 criteria provided, single submitter clinical testing Asp14124Asp in exon 215 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Asp14124Asp in exon 215 of TTN (allele fre quency = n/a)
Genetic Services Laboratory, University of Chicago RCV000040309 SCV000597653 likely benign not specified 2016-08-02 criteria provided, single submitter clinical testing
Invitae RCV000525959 SCV000643285 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing

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