Submissions for variant NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His)

gnomAD frequency: 0.00015  dbSNP: rs373210484

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000503523	SCV000596856	uncertain significance	not specified	2016-05-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000765496	SCV000896792	uncertain significance	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000765496	SCV001040530	likely benign	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2025-01-23	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001272192	SCV002533569	uncertain significance	Dyskeratosis congenita	2021-08-25	criteria provided, single submitter	curation
Ambry Genetics	RCV002446980	SCV002752946	likely benign	Inborn genetic diseases	2021-11-29	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.
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000765496	SCV006058530	uncertain significance	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2022-05-24	criteria provided, single submitter	research
Natera, Inc.	RCV001272192	SCV001453922	likely benign	Dyskeratosis congenita	2019-12-26	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535619	SCV004735743	likely benign	RTEL1-related disorder	2023-07-25	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).