ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103104A>G (p.Leu34368=) (rs371535721)

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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 RCV000222566 SCV000271124 likely benign not specified 2015-06-30 criteria provided, single submitter clinical testing p.Leu31800Leu in exon 307 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 6/66652 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725626 SCV000338287 uncertain significance not provided 2016-01-08 criteria provided, single submitter clinical testing
Invitae RCV001086398 SCV000555463 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-04 criteria provided, single submitter clinical testing
GeneDx RCV000725626 SCV001839472 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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