Submissions for variant NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)

dbSNP: rs372799151

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040548	SCV000064239	uncertain significance	not specified	2014-03-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000040548	SCV000237476	likely benign	not specified	2017-11-30	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080058	SCV000555612	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000725637	SCV000701056	uncertain significance	not provided	2017-03-09	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000725637	SCV001146475	benign	not provided	2019-06-17	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170571	SCV001333159	benign	Cardiomyopathy	2018-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002326749	SCV002627819	likely benign	Cardiovascular phenotype	2019-05-03	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000725637	SCV003800503	likely benign	not provided	2022-09-20	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000725637	SCV003825600	uncertain significance	not provided	2023-11-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725637	SCV005329752	uncertain significance	not provided	2024-08-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534923	SCV004723268	likely benign	TTN-related disorder	2022-09-08	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).