Submissions for variant NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln)

gnomAD frequency: 0.00011  dbSNP: rs201693851

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000726175	SCV000237388	likely benign	not provided	2021-04-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30847666)
Invitae	RCV000559556	SCV000643485	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-12-09	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726175	SCV000701283	uncertain significance	not provided	2017-02-08	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798652	SCV002042582	likely benign	Cardiomyopathy	2023-01-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453680	SCV002615002	likely benign	Cardiovascular phenotype	2020-06-10	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.
Clinical Genetics, Academic Medical Center	RCV000726175	SCV001920932	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000726175	SCV001957050	uncertain significance	not provided		no assertion criteria provided	clinical testing