Submissions for variant NM_001267550.2(TTN):c.69984G>A (p.Ala23328=)

gnomAD frequency: 0.00026  dbSNP: rs56052239

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726115	SCV000342074	uncertain significance	not provided	2016-07-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000726115	SCV000530479	likely benign	not provided	2019-10-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17344846)
Labcorp Genetics (formerly Invitae), Labcorp	RCV002059232	SCV002456535	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2022-10-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002328786	SCV002627840	likely benign	Cardiovascular phenotype	2019-08-06	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.
CeGaT Center for Human Genetics Tuebingen	RCV000726115	SCV005331279	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000295432	SCV001924078	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000726115	SCV001958083	likely benign	not provided		no assertion criteria provided	clinical testing