Submissions for variant NM_001283009.2(RTEL1):c.2940T>C (p.Pro980=)

gnomAD frequency: 0.00074  dbSNP: rs141618172

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000948072	SCV001094267	likely benign	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002434310	SCV002753303	likely benign	Inborn genetic diseases	2022-05-06	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.	RCV001272190	SCV001453920	likely benign	Dyskeratosis congenita	2019-12-09	no assertion criteria provided	clinical testing
Genetic Services Laboratory, University of Chicago	RCV003151229	SCV003839996	likely benign	not specified	2022-02-21	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004533630	SCV004752760	likely benign	RTEL1-related disorder	2019-07-08	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).