Submissions for variant NM_003098.3(SNTA1):c.1426-5T>C

gnomAD frequency: 0.00221  dbSNP: rs183939417

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000199737	SCV000252776	benign	Long QT syndrome	2024-01-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000437484	SCV000514721	benign	not specified	2015-09-11	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	RCV000619143	SCV000735232	likely benign	Cardiovascular phenotype	2019-02-01	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001286347	SCV001472901	likely benign	Long QT syndrome 12	2020-06-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947646	SCV004758639	likely benign	SNTA1-related disorder	2019-04-25	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).