Submissions for variant NM_001267550.2(TTN):c.47430T>C (p.Thr15810=)

gnomAD frequency: 0.00001  dbSNP: rs373878153

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000643320	SCV000765007	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-11-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002422316	SCV002720396	likely benign	Cardiovascular phenotype	2021-12-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV003139995	SCV003827931	uncertain significance	not provided	2022-11-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003892455	SCV004713729	likely benign	TTN-related condition	2023-06-02	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).