ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95130C>A (p.Gly31710=) (rs727504857)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156207 SCV000205923 likely benign not specified 2015-06-10 criteria provided, single submitter clinical testing p.Gly29142Gly in exon 292 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 1/65448 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727861 SCV000855329 uncertain significance not provided 2018-06-27 criteria provided, single submitter clinical testing
Invitae RCV000727861 SCV001008167 likely benign not provided 2018-08-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170764 SCV001333370 uncertain significance Cardiomyopathy 2019-03-29 criteria provided, single submitter clinical testing
Invitae RCV001421063 SCV001623577 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-07-08 criteria provided, single submitter clinical testing
GeneDx RCV000727861 SCV001767128 likely benign not provided 2019-04-30 criteria provided, single submitter clinical testing

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