Submissions for variant NM_133379.5(TTN):c.10917C>T (p.Gly3639=)

gnomAD frequency: 0.00199  dbSNP: rs140804168

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040999	SCV000064690	likely benign	not specified	2015-03-11	criteria provided, single submitter	clinical testing	p.Gly3639Gly in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.3% (29/11492) o f Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs140804168).
GeneDx	RCV000040999	SCV000169545	benign	not specified	2014-04-27	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.
Eurofins Ntd Llc (ga)	RCV000040999	SCV000702548	benign	not specified	2016-10-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000997578	SCV001153147	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000997578	SCV001157579	likely benign	not provided	2023-11-02	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496654	SCV002807490	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2021-08-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003914989	SCV004746245	likely benign	TTN-related condition	2019-04-26	criteria provided, single submitter	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000997578	SCV002033915	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000040999	SCV002034657	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000997578	SCV002034952	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000997578	SCV002035936	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000997578	SCV002037512	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000997578	SCV002038409	likely benign	not provided		no assertion criteria provided	clinical testing