Submissions for variant NM_001267550.2(TTN):c.34734A>G (p.Val11578=)

gnomAD frequency: 0.00001  dbSNP: rs866407525

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726345	SCV000343961	uncertain significance	not provided	2016-08-26	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000325214	SCV000712617	likely benign	not specified	2016-11-15	criteria provided, single submitter	clinical testing	p.Val10277Val in exon 147 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence.
Invitae	RCV001085747	SCV001013321	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-19	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486810	SCV004239893	likely benign	Cardiomyopathy	2023-05-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003920154	SCV004734317	likely benign	TTN-related condition	2019-08-05	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).