Submissions for variant NM_001283009.2(RTEL1):c.612C>T (p.His204=)

gnomAD frequency: 0.00040  dbSNP: rs142711955

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000502856	SCV000596807	likely benign	not specified	2019-12-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000970664	SCV001118255	likely benign	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2024-01-31	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002258937	SCV002533622	likely benign	Dyskeratosis congenita	2021-03-24	criteria provided, single submitter	curation
Ambry Genetics	RCV002367692	SCV002666023	likely benign	Inborn genetic diseases	2022-07-10	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.	RCV001275077	SCV001459831	uncertain significance	Dyskeratosis congenita, autosomal dominant 1	2020-06-05	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541567	SCV004764551	likely benign	RTEL1-related disorder	2023-12-06	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).