Submissions for variant NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=)

gnomAD frequency: 0.00086  dbSNP: rs12625047

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000503299	SCV000596819	likely benign	not specified	2015-08-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000974799	SCV001122665	benign	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2025-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001171959	SCV001334875	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	RTEL1: BP4, BP7, BS2
Sema4, Sema4	RCV001272659	SCV002533556	likely benign	Dyskeratosis congenita	2020-12-15	criteria provided, single submitter	curation
Ambry Genetics	RCV002438223	SCV002751135	likely benign	Inborn genetic diseases	2022-04-09	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.
Natera, Inc.	RCV001272659	SCV001454898	benign	Dyskeratosis congenita	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535614	SCV004739494	benign	RTEL1-related disorder	2019-05-17	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).