Submissions for variant NM_001267550.2(TTN):c.19677A>C (p.Ala6559=)

gnomAD frequency: 0.00004  dbSNP: rs372654116

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000273020	SCV000339154	uncertain significance	not provided	2016-01-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002059188	SCV002417143	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-25	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000273020	SCV003820330	uncertain significance	not provided	2019-08-14	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000273020	SCV001744424	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699281	SCV001925090	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000273020	SCV001955546	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000273020	SCV001964254	likely benign	not provided		no assertion criteria provided	clinical testing