Submissions for variant NM_001267550.2(TTN):c.51249C>A (p.Val17083=)

gnomAD frequency: 0.00004  dbSNP: rs377342233

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088974	SCV000643306	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-10-11	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727699	SCV000855045	uncertain significance	not provided	2018-02-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002448712	SCV002732680	likely benign	Cardiovascular phenotype	2019-11-13	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000727699	SCV001740762	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000727699	SCV001798218	likely benign	not provided		no assertion criteria provided	clinical testing