Submissions for variant NM_001267550.2(TTN):c.31762+5_31762+7del

dbSNP: rs397517538

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040124	SCV000063815	likely benign	not specified	2018-08-16	criteria provided, single submitter	clinical testing	c.28030+5_28030+7delGCC in intron 118 of TTN: This variant is not expected to ha ve clinical significance because it has been identified in 0.04% (10/25696) of F innish chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.bro adinstitute.org; dbSNP rs397517538). In addition, this variant is located in the 5' splice region and computational tools do not suggest an impact to splicing. ACMG/AMP Criteria applied: BS1; BP4.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000459619	SCV000542245	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2018-01-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000040124	SCV000565638	benign	not specified	2015-10-20	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.
Athena Diagnostics	RCV000714012	SCV000844675	uncertain significance	not provided	2017-10-09	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000714012	SCV000855270	uncertain significance	not provided	2017-11-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000714012	SCV001152992	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	TTN: BP4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000714012	SCV001742672	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000714012	SCV001920584	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000714012	SCV001959378	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004734560	SCV005353803	likely benign	TTN-related disorder	2024-04-28	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).