Submissions for variant NM_001267550.2(TTN):c.65187G>A (p.Glu21729=)

dbSNP: rs397517660

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040489	SCV000064180	likely benign	not specified	2012-05-17	criteria provided, single submitter	clinical testing	Glu19161Glu in exon 260 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Glu19161Glu in exon 260 of TTN (allele fre quency = n/a)
Genetic Services Laboratory, University of Chicago	RCV000040489	SCV000249277	uncertain significance	not specified	2015-04-04	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170805	SCV001333423	benign	Cardiomyopathy	2017-11-02	criteria provided, single submitter	clinical testing
Invitae	RCV002514153	SCV002970266	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2022-11-16	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000040489	SCV001916986	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727544	SCV001972369	likely benign	not provided		no assertion criteria provided	clinical testing