Submissions for variant NM_001267550.2(TTN):c.2061A>G (p.Gln687=)

gnomAD frequency: 0.00009  dbSNP: rs188680791

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000642833	SCV000764520	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-11-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000828783	SCV000970484	likely benign	not provided	2020-05-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002406396	SCV002721501	benign	Cardiovascular phenotype	2020-07-14	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Clinical Genetics, Academic Medical Center	RCV000828783	SCV001918121	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000828783	SCV001955282	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000828783	SCV002034002	likely benign	not provided		no assertion criteria provided	clinical testing