Submissions for variant NM_001283009.2(RTEL1):c.2775C>T (p.Ser925=)

gnomAD frequency: 0.00414  dbSNP: rs12480346

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000501824	SCV000596818	benign	not specified	2021-03-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000651120	SCV000772970	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
GeneDx	RCV001692152	SCV001911050	benign	not provided	2020-04-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002438222	SCV002748521	likely benign	Inborn genetic diseases	2022-02-14	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.
Breakthrough Genomics, Breakthrough Genomics	RCV001692152	SCV005314086	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001272658	SCV001454897	benign	Dyskeratosis congenita	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541569	SCV004798904	benign	RTEL1-related disorder	2019-03-20	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).