Submissions for variant NM_001283009.2(RTEL1):c.1602C>T (p.Ser534=)

gnomAD frequency: 0.00008  dbSNP: rs745339095

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000904685	SCV001049220	likely benign	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2024-07-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004958254	SCV005487335	likely benign	Inborn genetic diseases	2024-12-02	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.	RCV001277127	SCV001463955	uncertain significance	Dyskeratosis congenita	2020-01-24	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541909	SCV004771229	likely benign	RTEL1-related disorder	2023-12-27	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).