Submissions for variant NM_001267550.2(TTN):c.96138A>T (p.Ile32046=)

gnomAD frequency: 0.00016  dbSNP: rs368154623

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000518399	SCV000616188	likely benign	not specified	2017-05-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088427	SCV000765009	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-19	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000734454	SCV000862598	uncertain significance	not provided	2018-07-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000734454	SCV001793399	likely benign	not provided	2020-12-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002367721	SCV002662940	likely benign	Cardiovascular phenotype	2021-05-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Revvity Omics, Revvity	RCV000734454	SCV003825462	likely benign	not provided	2023-09-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537865	SCV004709282	likely benign	TTN-related disorder	2022-06-29	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).