ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12234C>G (p.Thr4078=) (rs192857526)

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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 RCV000041091 SCV000064782 likely benign not specified 2015-04-16 criteria provided, single submitter clinical testing p.Thr3840Thr in exon 45B of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.1% (17/16508) o f South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs192857526).
GeneDx RCV000041091 SCV000236727 benign not specified 2014-08-26 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 RCV001085596 SCV000642656 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585032 SCV000693029 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041091 SCV000855258 likely benign not specified 2018-07-16 criteria provided, single submitter clinical testing

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