Submissions for variant NM_000335.5(SCN5A):c.5370C>T (p.Phe1790=)

gnomAD frequency: 0.00001  dbSNP: rs372380415

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000422561	SCV000515310	likely benign	not specified	2016-12-01	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.
Color Diagnostics, LLC DBA Color Health	RCV001841301	SCV001359858	likely benign	Cardiac arrhythmia	2019-03-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003657004	SCV001627731	likely benign	not provided	2024-05-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002348156	SCV002641643	likely benign	Cardiovascular phenotype	2020-01-31	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486829	SCV004239679	likely benign	Cardiomyopathy	2022-11-25	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001841301	SCV004826352	likely benign	Cardiac arrhythmia	2024-06-11	criteria provided, single submitter	clinical testing