ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99102G>C (p.Trp33034Cys) (rs397517778)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040881 SCV000064572 likely benign not specified 2015-01-19 criteria provided, single submitter clinical testing p.Trp30466Cys in exon 303 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.3% (25/8738) of East Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs397517778).
GeneDx RCV001703914 SCV000237866 likely benign not provided 2019-07-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362)
Invitae RCV000643803 SCV000765490 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040881 SCV000858115 likely benign not specified 2017-11-17 criteria provided, single submitter clinical testing

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