Submissions for variant NM_006073.4(TRDN):c.383C>G (p.Thr128Ser)

gnomAD frequency: 0.50546  dbSNP: rs9490809

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000216773	SCV000269903	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Thr128Ser in exon 3 of TRDN: This variant is not expected to have clinical signi ficance because it has been identified in 46.3% (3802/8220) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs9490809).
PreventionGenetics, part of Exact Sciences	RCV000216773	SCV000311376	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000216773	SCV000520315	benign	not specified	2016-09-22	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	RCV000622137	SCV000734967	benign	Cardiovascular phenotype	2015-03-09	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.
Invitae	RCV002517463	SCV001716604	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001838560	SCV002098723	benign	Catecholaminergic polymorphic ventricular tachycardia 5	2021-09-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000216773	SCV003928254	likely benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000216773	SCV001921673	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000216773	SCV001963345	benign	not specified		no assertion criteria provided	clinical testing