Submissions for variant NM_001267550.2(TTN):c.70260G>A (p.Pro23420=)

gnomAD frequency: 0.00002  dbSNP: rs72646887

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000246306	SCV000319021	likely benign	Cardiovascular phenotype	2013-11-18	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.
GeneDx	RCV000424783	SCV000530464	likely benign	not specified	2016-07-27	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	RCV000476736	SCV000542256	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-05-17	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000725903	SCV000701186	uncertain significance	not provided	2017-05-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725903	SCV004150302	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7