Submissions for variant NM_001267550.2(TTN):c.90237C>T (p.His30079=)

gnomAD frequency: 0.00004  dbSNP: rs756663688

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000342013	SCV000333914	uncertain significance	not provided	2015-08-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081453	SCV001008384	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000342013	SCV001831581	benign	not provided	2016-01-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000342013	SCV002063940	likely benign	not provided	2021-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003165726	SCV003887493	likely benign	Cardiovascular phenotype	2023-01-07	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.