Submissions for variant NM_001267550.2(TTN):c.101708G>A (p.Arg33903His)

gnomAD frequency: 0.00017  dbSNP: rs72629782

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172164	SCV000051094	uncertain significance	not provided	2013-06-24	criteria provided, single submitter	research
GeneDx	RCV000172164	SCV000713891	likely benign	not provided	2020-05-20	criteria provided, single submitter	clinical testing
Invitae	RCV001087093	SCV001011168	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-18	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000172164	SCV003824807	uncertain significance	not provided	2021-07-28	criteria provided, single submitter	clinical testing
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University	RCV003319184	SCV003932381	uncertain significance	Primary dilated cardiomyopathy	2023-06-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975248	SCV004789595	likely benign	TTN-related condition	2022-01-26	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).