Submissions for variant NM_001267550.2(TTN):c.18363G>A (p.Gln6121=)

gnomAD frequency: 0.00003  dbSNP: rs375032616

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039907	SCV000063598	likely benign	not specified	2012-04-05	criteria provided, single submitter	clinical testing	Gln4877Gln in exon 60 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and it is not located w ithin the splice consensus sequence. Gln4877Gln in exon 60 of TTN (allele freq uency = n/a)
GeneDx	RCV001573487	SCV000515099	likely benign	not provided	2020-05-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000867159	SCV001008355	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-11-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839516	SCV002099989	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839517	SCV002099991	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839518	SCV002099992	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839515	SCV002099993	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573487	SCV001799435	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039907	SCV001920356	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573487	SCV001980641	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534860	SCV004709819	likely benign	TTN-related disorder	2023-08-02	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).