Submissions for variant NM_001267550.2(TTN):c.1212C>T (p.Tyr404=)

gnomAD frequency: 0.00031  dbSNP: rs139187345

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000472908	SCV000555637	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001696903	SCV000726624	likely benign	not provided	2020-02-25	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770165	SCV000901591	likely benign	Cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356718	SCV002658326	likely benign	Cardiovascular phenotype	2019-03-29	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	RCV001696903	SCV003818372	likely benign	not provided	2023-09-07	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001796066	SCV002034719	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001696903	SCV002038385	likely benign	not provided		no assertion criteria provided	clinical testing