Submissions for variant NM_001283009.2(RTEL1):c.1419C>A (p.Arg473=)

dbSNP: rs117195545

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001470307	SCV001674402	likely benign	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2023-11-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004952926	SCV005492631	likely benign	Inborn genetic diseases	2024-11-24	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.
Genetic Services Laboratory, University of Chicago	RCV003151328	SCV003840000	likely benign	not specified	2022-12-19	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004540395	SCV004771842	likely benign	RTEL1-related disorder	2019-07-24	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).