ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68082C>T (p.Cys22694=) (rs79406408)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487687 SCV000575277 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000154927 SCV000521967 likely benign not specified 2016-08-10 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 RCV000557982 SCV000643571 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154927 SCV000204609 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Cys20126Cys in exon 269 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 0.1% (3/3292) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs79406408).

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