ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18561G>A (p.Ala6187=) (rs377556808)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222606 SCV000270981 likely benign not specified 2015-08-13 criteria provided, single submitter clinical testing p.Ala4943Ala in Exon 60 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 1/ 66688 European chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; rs377556808).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726151 SCV000342465 uncertain significance not provided 2016-06-23 criteria provided, single submitter clinical testing
Invitae RCV001085746 SCV000555002 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769069 SCV000900442 likely benign Cardiomyopathy 2016-08-02 criteria provided, single submitter clinical testing

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