Submissions for variant NM_001267550.2(TTN):c.9423T>C (p.Phe3141=)

gnomAD frequency: 0.00003  dbSNP: rs766671126

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001440719	SCV001643630	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002377721	SCV002686533	likely benign	Cardiovascular phenotype	2020-03-17	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.
PreventionGenetics, part of Exact Sciences	RCV003900512	SCV004710500	likely benign	TTN-related condition	2023-07-14	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).
Clinical Genetics, Academic Medical Center	RCV001699546	SCV001918350	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724321	SCV001955756	likely benign	not provided		no assertion criteria provided	clinical testing