ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55929A>G (p.Gln18643=) (rs151335428)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000118766 SCV000616109 likely benign not specified 2017-06-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118766 SCV000709116 likely benign not specified 2017-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000118766 SCV000729350 likely benign not specified 2018-01-31 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.
Genetic Services Laboratory, University of Chicago RCV000118766 SCV000153303 benign not specified 2013-12-04 criteria provided, single submitter clinical testing
Invitae RCV000477604 SCV000555514 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000118766 SCV000271040 likely benign not specified 2015-04-07 criteria provided, single submitter clinical testing p.Gln16075Gln in exon 237 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 0.3% (29/9770) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs151335428).

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