Submissions for variant NM_001267550.2(TTN):c.11311+1080del

dbSNP: rs58651353

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040993	SCV000064684	likely benign	not specified	2013-04-20	criteria provided, single submitter	clinical testing	10361-5delT in intron 45 of TTN: This variant is not expected to have clinical s ignificance because it is located outside the conserved +/- 1, 2 region of the s plicing consensus sequence and as part of a polyT stretch. This variant has bee n reported in dbSNP (rs66641728) without frequency information. 10361-5delT in intron 45 of TTN (rs66641728; allele frequency = n/a)
GeneDx	RCV001573523	SCV001841378	benign	not provided	2019-08-10	criteria provided, single submitter	clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000415691	SCV000493819	uncertain significance	Dilated cardiomyopathy 1G	2015-09-26	no assertion criteria provided	clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000415616	SCV000493820	uncertain significance	Hypertrophic cardiomyopathy 9	2015-09-26	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000040993	SCV001742762	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573523	SCV001799519	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000040993	SCV001957317	benign	not specified		no assertion criteria provided	clinical testing