Submissions for variant NM_001267550.2(TTN):c.74763C>T (p.Ser24921=)

gnomAD frequency: 0.00001  dbSNP: rs371563258

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088670	SCV000286829	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-12-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000246952	SCV000319986	likely benign	Cardiovascular phenotype	2015-09-04	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.
Eurofins Ntd Llc (ga)	RCV000725711	SCV000701092	uncertain significance	not provided	2016-10-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000725711	SCV000714717	likely benign	not provided	2021-07-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769942	SCV000901368	likely benign	Cardiomyopathy	2016-07-11	criteria provided, single submitter	clinical testing