Submissions for variant NM_002230.4(JUP):c.654G>A (p.Gly218=)

gnomAD frequency: 0.00002  dbSNP: rs112105828

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000543133	SCV000645745	likely benign	Naxos disease; Arrhythmogenic right ventricular dysplasia 12	2024-11-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170586	SCV001333174	likely benign	Cardiomyopathy	2018-02-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001528319	SCV001903378	likely benign	not provided	2020-10-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002367884	SCV002658989	likely benign	Cardiovascular phenotype	2019-09-12	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528319	SCV001739869	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700411	SCV001923192	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001528319	SCV001929818	likely benign	not provided		no assertion criteria provided	clinical testing