Submissions for variant NM_133379.5(TTN):c.10920T>C (p.Ser3640=)

gnomAD frequency: 0.00059  dbSNP: rs142585268

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152465	SCV000201572	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Ser3640Ser in exon 45A of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.1% (5/7020) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs142585268).
GeneDx	RCV000152465	SCV000236715	benign	not specified	2014-10-29	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)	RCV000152465	SCV000704300	likely benign	not specified	2017-03-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498715	SCV002807685	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	2021-10-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544379	SCV004769114	likely benign	TTN-related disorder	2020-06-15	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000997577	SCV001744341	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000152465	SCV001924984	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000997577	SCV001928934	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000152465	SCV001955172	benign	not specified		no assertion criteria provided	clinical testing