Submissions for variant NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu)

gnomAD frequency: 0.00045  dbSNP: rs139504522

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000595289	SCV000238073	likely benign	not specified	2018-01-03	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	RCV001087649	SCV000555541	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726573	SCV000701611	uncertain significance	not provided	2018-02-27	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769099	SCV000900472	benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000726573	SCV002541984	uncertain significance	not provided	2022-03-15	criteria provided, single submitter	clinical testing	BS1
Ambry Genetics	RCV002381619	SCV002691011	likely benign	Cardiovascular phenotype	2019-07-20	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	RCV000726573	SCV003820249	uncertain significance	not provided	2019-06-19	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000595289	SCV006067432	likely benign	not specified	2025-04-09	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000726573	SCV001920126	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000726573	SCV001963456	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000726573	SCV001963746	likely benign	not provided		no assertion criteria provided	clinical testing