Submissions for variant NM_001267550.2(TTN):c.106788A>T (p.Thr35596=)

gnomAD frequency: 0.00010  dbSNP: rs369896045

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040982	SCV000064673	likely benign	not specified	2012-04-05	criteria provided, single submitter	clinical testing	Thr33028Thr in exon 309 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence. Thr33028Thr in exon 309 of TTN (allele f requency = n/a)
Invitae	RCV000474394	SCV000555617	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000040982	SCV000708780	likely benign	not specified	2017-05-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001540268	SCV001758134	likely benign	not provided	2020-03-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839769	SCV002100421	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839770	SCV002100432	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839771	SCV002100443	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839768	SCV002100454	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415482	SCV002677451	benign	Cardiovascular phenotype	2020-07-21	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics, Academic Medical Center	RCV000040982	SCV001924789	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001540268	SCV001952398	likely benign	not provided		no assertion criteria provided	clinical testing