Submissions for variant NM_000238.4(KCNH2):c.1353G>A (p.Pro451=)

gnomAD frequency: 0.00067  dbSNP: rs763446458

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000181723	SCV000234026	benign	not specified	2014-05-23	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.
Ambry Genetics	RCV000619677	SCV000737914	likely benign	Cardiovascular phenotype	2017-02-07	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.
Color Diagnostics, LLC DBA Color Health	RCV001842801	SCV001347974	benign	Cardiac arrhythmia	2018-11-25	criteria provided, single submitter	clinical testing
Invitae	RCV001516764	SCV001725109	benign	Long QT syndrome	2021-10-28	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001516764	SCV004844002	benign	Long QT syndrome	2023-10-30	criteria provided, single submitter	clinical testing