Submissions for variant NM_001283009.2(RTEL1):c.3138G>A (p.Gly1046=)

gnomAD frequency: 0.00001  dbSNP: rs762571471

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000930976	SCV001076636	likely benign	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2024-12-12	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004704334	SCV005206121	likely benign	not provided		criteria provided, single submitter	not provided
Ambry Genetics	RCV004958300	SCV005492685	likely benign	Inborn genetic diseases	2024-11-27	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.	RCV001832117	SCV002095541	likely benign	Dyskeratosis congenita	2020-10-30	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004735894	SCV005342127	likely benign	RTEL1-related disorder	2024-03-14	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).