Submissions for variant NM_001267550.2(TTN):c.83133G>A (p.Lys27711=)

gnomAD frequency: 0.00026  dbSNP: rs369223412

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125915	SCV000169390	benign	not specified	2013-08-12	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	RCV001087514	SCV000643769	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000714101	SCV000844772	benign	not provided	2018-05-03	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000714101	SCV000855072	uncertain significance	not provided	2017-11-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345432	SCV002651378	likely benign	Cardiovascular phenotype	2019-09-30	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486655	SCV004240132	likely benign	Cardiomyopathy	2022-10-11	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000714101	SCV001744680	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000125915	SCV001925894	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000125915	SCV001926535	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000125915	SCV001956141	benign	not specified		no assertion criteria provided	clinical testing