Submissions for variant NM_001267550.2(TTN):c.62424C>T (p.Asp20808=)

gnomAD frequency: 0.00021  dbSNP: rs374472044

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000247177	SCV000318635	likely benign	Cardiovascular phenotype	2013-04-29	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	RCV000726100	SCV000515155	likely benign	not provided	2020-12-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726100	SCV000701228	uncertain significance	not provided	2016-11-15	criteria provided, single submitter	clinical testing
Invitae	RCV001087147	SCV000765512	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171289	SCV001334012	likely benign	Cardiomyopathy	2022-04-05	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000726100	SCV002037393	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000726100	SCV002038316	likely benign	not provided		no assertion criteria provided	clinical testing