Submissions for variant NM_001267550.2(TTN):c.21489C>G (p.Thr7163=)

dbSNP: rs376882041

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000154981	SCV000169617	benign	not specified	2014-04-01	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154981	SCV000204663	likely benign	not specified	2017-07-27	criteria provided, single submitter	clinical testing	p.Thr5919Thr in exon 71 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, and is not located w ithin the splice consensus sequence. It has been identified in 0.21% (50/23982) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad .broadinstitute.org; dbSNP rs376882041).
Eurofins Ntd Llc (ga)	RCV000154981	SCV000333852	likely benign	not specified	2015-08-06	criteria provided, single submitter	clinical testing
Invitae	RCV000534956	SCV000642799	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154981	SCV002041802	likely benign	not specified	2021-11-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840029	SCV002099882	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840030	SCV002099883	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840031	SCV002099884	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840028	SCV002099885	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003736593	SCV004563373	benign	not provided	2023-09-28	criteria provided, single submitter	clinical testing