ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser) (rs149075285)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620143 SCV000736506 benign Cardiovascular phenotype 2016-01-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152226 SCV000334998 likely benign not specified 2015-09-08 criteria provided, single submitter clinical testing
GeneDx RCV000152226 SCV000237490 likely benign not specified 2018-01-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000230428 SCV000286814 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152226 SCV000201014 likely benign not specified 2015-10-31 criteria provided, single submitter clinical testing p.Ile21083Ser in exon 275 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.8% (78/9470) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs149075285).

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