ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104364C>T (p.Ser34788=) (rs181679744)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040937 SCV000064628 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ser32220Ser in Exon 307 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in 1/6700 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725850 SCV000339937 uncertain significance not provided 2016-03-03 criteria provided, single submitter clinical testing
Invitae RCV001087200 SCV000642556 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-07-27 criteria provided, single submitter clinical testing
GeneDx RCV000725850 SCV000728924 likely benign not provided 2021-02-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503780)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000725850 SCV001152584 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing

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