ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28971G>A (p.Ser9657=) (rs370903846)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725166 SCV000334595 uncertain significance not provided 2015-08-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000311992 SCV000710961 likely benign not specified 2016-08-03 criteria provided, single submitter clinical testing p.Ser8413Ser in exon 97 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. it has been identified in 1/6576 of European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs370903846).
Invitae RCV001088735 SCV001009991 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-09-03 criteria provided, single submitter clinical testing

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