Submissions for variant NM_001267550.2(TTN):c.48843C>T (p.Thr16281=)

dbSNP: rs547682223

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156500	SCV000206219	likely benign	not specified	2014-04-17	criteria provided, single submitter	clinical testing	Thr13713Thr in exon 210 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 wi thin the splice consensus sequence.
GeneDx	RCV000156500	SCV000732684	likely benign	not specified	2017-06-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000643481	SCV000765168	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-11-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003430715	SCV004152407	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004734742	SCV005353857	likely benign	TTN-related disorder	2024-03-25	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).