Submissions for variant NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser)

dbSNP: rs886039082

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000247192	SCV000319969	likely benign	Cardiovascular phenotype	2021-08-05	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	RCV000526468	SCV000643574	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-01-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000828869	SCV000970571	uncertain significance	not provided	2020-12-01	criteria provided, single submitter	clinical testing	Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798754	SCV002042613	likely benign	Cardiomyopathy	2023-02-24	criteria provided, single submitter	clinical testing