Submissions for variant NM_001267550.2(TTN):c.57369C>T (p.Thr19123=)

gnomAD frequency: 0.00002  dbSNP: rs199742163

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001529316	SCV000730388	likely benign	not provided	2021-01-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619056	SCV000735432	likely benign	Cardiovascular phenotype	2016-07-18	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000864667	SCV001005498	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-12-06	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001724084	SCV002598993	likely benign	not specified	2022-09-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529316	SCV001742554	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724084	SCV001955900	benign	not specified		no assertion criteria provided	clinical testing