Submissions for variant NM_003098.3(SNTA1):c.317G>A (p.Arg106Gln)

gnomAD frequency: 0.00904  dbSNP: rs75025585

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171823	SCV000055305	benign	not specified	2013-06-24	criteria provided, single submitter	research
Invitae	RCV000228099	SCV000287867	benign	Long QT syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000250468	SCV000320047	benign	Cardiovascular phenotype	2015-08-10	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV001094617	SCV000433516	likely benign	Long QT syndrome 12	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756673	SCV000884556	benign	not provided	2018-03-20	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852949	SCV000995696	benign	Primary dilated cardiomyopathy	2017-08-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000756673	SCV001838244	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000171823	SCV001922259	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000171823	SCV001971681	benign	not specified		no assertion criteria provided	clinical testing