Submissions for variant NM_002230.4(JUP):c.750G>A (p.Leu250=)

gnomAD frequency: 0.00001  dbSNP: rs148381639

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000612589	SCV000719090	likely benign	not specified	2017-05-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001427750	SCV001630435	likely benign	Naxos disease; Arrhythmogenic right ventricular dysplasia 12	2023-10-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004024926	SCV005018398	likely benign	Cardiovascular phenotype	2024-03-01	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.