Submissions for variant NM_001267550.2(TTN):c.88733G>A (p.Arg29578His)

gnomAD frequency: 0.00030  dbSNP: rs374147064

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172623	SCV000054905	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
GeneDx	RCV000172623	SCV000237708	likely benign	not provided	2021-04-26	criteria provided, single submitter	clinical testing
Invitae	RCV001082027	SCV000643850	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-26	criteria provided, single submitter	clinical testing
Genetics and Genomics Program, Sidra Medicine	RCV001293122	SCV001434112	likely benign	Primary dilated cardiomyopathy		criteria provided, single submitter	research
Ambry Genetics	RCV002354443	SCV002654934	likely benign	Cardiovascular phenotype	2020-05-18	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.
Revvity Omics, Revvity	RCV000172623	SCV003824842	uncertain significance	not provided	2022-11-08	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000172623	SCV001920583	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000172623	SCV001966299	uncertain significance	not provided		no assertion criteria provided	clinical testing