Submissions for variant NM_001283009.2(RTEL1):c.3267C>T (p.Asp1089=)

gnomAD frequency: 0.00006  dbSNP: rs370637234

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000915509	SCV001060720	likely benign	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2024-11-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004958276	SCV005492572	likely benign	Inborn genetic diseases	2024-11-21	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.	RCV001836011	SCV002095547	likely benign	Dyskeratosis congenita	2020-02-06	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004543432	SCV004759305	likely benign	RTEL1-related disorder	2020-03-12	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).