Submissions for variant NM_001267550.2(TTN):c.66123A>G (p.Pro22041=)

gnomAD frequency: 0.00010  dbSNP: rs727504190

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723921	SCV000203700	uncertain significance	not provided	2016-03-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000154060	SCV000515160	benign	not specified	2016-10-12	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	RCV001084773	SCV000643541	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354361	SCV002619884	likely benign	Cardiovascular phenotype	2020-06-29	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.
CeGaT Center for Human Genetics Tuebingen	RCV000723921	SCV004150316	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7