ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.107766T>C (p.Gly35922=) (rs147293964)

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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 RCV000245995 SCV000318938 likely benign Cardiovascular phenotype 2013-10-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039844 SCV000855256 likely benign not specified 2017-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000039844 SCV000730448 likely benign not specified 2017-08-08 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 RCV000464935 SCV000555132 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039844 SCV000063535 benign not specified 2015-06-10 criteria provided, single submitter clinical testing p.Gly33354Gly in exon 312 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.3% (28/9724) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs147293964).

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