Submissions for variant NM_001283009.2(RTEL1):c.3412C>A (p.Arg1138=)

dbSNP: rs6062495

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000541509	SCV000653583	benign	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002456240	SCV002617618	likely benign	Inborn genetic diseases	2022-02-17	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.
CeGaT Center for Human Genetics Tuebingen	RCV003437275	SCV004151000	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	RTEL1: BP4, BP7, BS1, BS2; RTEL1-TNFRSF6B: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573827	SCV001800239	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001573827	SCV001954872	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001834809	SCV002095562	likely benign	Dyskeratosis congenita	2019-12-13	no assertion criteria provided	clinical testing